WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs2236936
gnomAD v2:
2-102443821-C-G
gnomAD v3:
2-101827359-C-G
gnomAD v4:
2-101827359-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.101827359C>G , CM000664.2:g.101827359C>G | GRCh38 |
| NC_000002.11:g.102443821C>G , CM000664.1:g.102443821C>G | GRCh37 |
| NC_000002.10:g.101810253C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324219.9:c.417+1930C>G MANE Select | ENSP00000313644.6:n.417+1930C>G | |
| ENST00000350878.9:c.417+1930C>G | ENSP00000343658.5:n.417+1930C>G | |
| ENST00000425019.6:c.417+1930C>G | ENSP00000392830.2:n.417+1930C>G | |
| ENST00000625522.3:c.417+1930C>G | ENSP00000486116.2:n.417+1930C>G | |
| ENST00000627726.3:n.387+1930C>G | ||
| ENST00000302217.9:c.252+1930C>G | ENSP00000303600.6:n.252+1930C>G | |
| ENST00000324219.8:c.417+1930C>G | ENSP00000313644.5:n.417+1930C>G | |
| ENST00000347699.8:c.417+1930C>G | ENSP00000314363.6:n.417+1930C>G | |
| ENST00000350198.8:c.417+1930C>G | ENSP00000281111.7:n.417+1930C>G | |
| ENST00000350878.8:c.417+1930C>G | ENSP00000343658.5:n.417+1930C>G | |
| ENST00000413150.6:c.417+1930C>G | ENSP00000389752.1:n.417+1930C>G | |
| ENST00000417294.5:c.303+1930C>G | ENSP00000409720.1:n.303+1930C>G | |
| ENST00000425019.5:c.417+1930C>G | ENSP00000392830.1:n.417+1930C>G | |
| ENST00000456652.5:c.417+1930C>G | ENSP00000387370.1:n.417+1930C>G | |
| ENST00000476609.1:n.28+1930C>G | ||
| ENST00000489490.1:n.111+1930C>G | ||
| ENST00000496989.5:n.387+1930C>G | ||
| ENST00000625522.2:c.417+1930C>G | ENSP00000486116.1:n.417+1930C>G | |
| ENST00000627726.2:c.417+1930C>G | ENSP00000487176.1:n.417+1930C>G | |
| ENST00000634702.1:c.417+1930C>G | ENSP00000489579.1:n.417+1930C>G | |
| NM_001242559.1:c.417+1930C>G | NP_001229488.1:n.417+1930C>G | |
| NM_001242560.1:c.417+1930C>G | NP_001229489.1:n.417+1930C>G | |
| NM_004834.4:c.417+1930C>G | NP_004825.3:n.417+1930C>G | |
| NM_145686.3:c.417+1930C>G | NP_663719.2:n.417+1930C>G | |
| NM_145687.3:c.417+1930C>G | NP_663720.1:n.417+1930C>G | |
| XM_005264044.3:c.417+1930C>G | XP_005264101.1:n.417+1930C>G | |
| XM_005264045.3:c.417+1930C>G | XP_005264102.1:n.417+1930C>G | |
| XM_005264046.3:c.417+1930C>G | XP_005264103.1:n.417+1930C>G | |
| XM_005264047.3:c.417+1930C>G | XP_005264104.1:n.417+1930C>G | |
| XM_005264048.2:c.417+1930C>G | XP_005264105.1:n.417+1930C>G | |
| XM_005264049.3:c.417+1930C>G | XP_005264106.1:n.417+1930C>G | |
| XM_005264050.3:c.417+1930C>G | XP_005264107.1:n.417+1930C>G | |
| XM_005264052.3:c.417+1930C>G | XP_005264109.1:n.417+1930C>G | |
| XM_005264053.3:c.417+1930C>G | XP_005264110.1:n.417+1930C>G | |
| XM_005264054.3:c.417+1930C>G | XP_005264111.1:n.417+1930C>G | |
| XM_005264055.2:c.417+1930C>G | XP_005264112.1:n.417+1930C>G | |
| XM_005264056.2:c.417+1930C>G | XP_005264113.1:n.417+1930C>G | |
| XM_005264057.3:c.417+1930C>G | XP_005264114.1:n.417+1930C>G | |
| XM_005264058.3:c.417+1930C>G | XP_005264115.1:n.417+1930C>G | |
| XM_005264059.3:c.417+1930C>G | XP_005264116.1:n.417+1930C>G | |
| XM_005264060.3:c.417+1930C>G | XP_005264117.1:n.417+1930C>G | |
| XM_005264062.3:c.417+1930C>G | XP_005264119.1:n.417+1930C>G | |
| XM_005264063.3:c.417+1930C>G | XP_005264120.1:n.417+1930C>G | |
| XM_005264064.3:c.417+1930C>G | XP_005264121.1:n.417+1930C>G | |
| XM_005264065.3:c.417+1930C>G | XP_005264122.1:n.417+1930C>G | |
| XM_005264066.3:c.417+1930C>G | XP_005264123.1:n.417+1930C>G | |
| XM_005264068.3:c.417+1930C>G | XP_005264125.1:n.417+1930C>G | |
| XM_005264069.2:c.417+1930C>G | XP_005264126.1:n.417+1930C>G | |
| XM_005264071.2:c.417+1930C>G | XP_005264128.1:n.417+1930C>G | |
| XM_006712865.2:c.417+1930C>G | XP_006712928.1:n.417+1930C>G | |
| XM_006712866.2:c.357+1930C>G | XP_006712929.1:n.357+1930C>G | |
| XM_006712867.2:c.417+1930C>G | XP_006712930.1:n.417+1930C>G | |
| XM_006712868.2:c.417+1930C>G | XP_006712931.1:n.417+1930C>G | |
| XM_006712869.2:c.417+1930C>G | XP_006712932.1:n.417+1930C>G | |
| XM_011512201.1:c.396+1930C>G | XP_011510503.1:n.396+1930C>G | |
| XM_011512202.1:c.417+1930C>G | XP_011510504.1:n.417+1930C>G | |
| XM_011512203.1:c.417+1930C>G | XP_011510505.1:n.417+1930C>G | |
| XM_011512204.1:c.396+1930C>G | XP_011510506.1:n.396+1930C>G | |
| XM_011512205.1:c.417+1930C>G | XP_011510507.1:n.417+1930C>G | |
| XM_017005349.1:c.417+1930C>G | XP_016860838.1:n.417+1930C>G | |
| XM_017005350.1:c.417+1930C>G | XP_016860839.1:n.417+1930C>G | |
| XM_017005351.1:c.417+1930C>G | XP_016860840.1:n.417+1930C>G | |
| XM_017005352.1:c.417+1930C>G | XP_016860841.1:n.417+1930C>G | |
| XM_017005353.1:c.417+1930C>G | XP_016860842.1:n.417+1930C>G | |
| XM_017005354.1:c.417+1930C>G | XP_016860843.1:n.417+1930C>G | |
| XM_017005355.1:c.417+1930C>G | XP_016860844.1:n.417+1930C>G | |
| XM_017005356.1:c.417+1930C>G | XP_016860845.1:n.417+1930C>G | |
| XM_017005357.1:c.417+1930C>G | XP_016860846.1:n.417+1930C>G | |
| XM_017005358.1:c.417+1930C>G | XP_016860847.1:n.417+1930C>G | |
| XM_017005359.1:c.417+1930C>G | XP_016860848.1:n.417+1930C>G | |
| XM_017005360.1:c.417+1930C>G | XP_016860849.1:n.417+1930C>G | |
| XM_017005361.1:c.417+1930C>G | XP_016860850.1:n.417+1930C>G | |
| XM_017005362.1:c.417+1930C>G | XP_016860851.1:n.417+1930C>G | |
| XM_017005363.1:c.417+1930C>G | XP_016860852.1:n.417+1930C>G | |
| XM_017005364.1:c.417+1930C>G | XP_016860853.1:n.417+1930C>G | |
| XM_017005365.1:c.417+1930C>G | XP_016860854.1:n.417+1930C>G | |
| XM_017005366.1:c.417+1930C>G | XP_016860855.1:n.417+1930C>G | |
| XM_017005367.1:c.417+1930C>G | XP_016860856.1:n.417+1930C>G | |
| XM_017005368.1:c.417+1930C>G | XP_016860857.1:n.417+1930C>G | |
| XM_017005369.1:c.417+1930C>G | XP_016860858.1:n.417+1930C>G | |
| XM_017005370.1:c.417+1930C>G | XP_016860859.1:n.417+1930C>G | |
| XM_017005371.1:c.417+1930C>G | XP_016860860.1:n.417+1930C>G | |
| XM_017005372.1:c.417+1930C>G | XP_016860861.1:n.417+1930C>G | |
| XM_017005373.1:c.417+1930C>G | XP_016860862.1:n.417+1930C>G | |
| XM_017005374.1:c.417+1930C>G | XP_016860863.1:n.417+1930C>G | |
| XM_017005375.1:c.417+1930C>G | XP_016860864.1:n.417+1930C>G | |
| NM_001242559.2:c.417+1930C>G | NP_001229488.1:n.417+1930C>G | |
| NM_001242560.2:c.417+1930C>G | NP_001229489.1:n.417+1930C>G | |
| NM_004834.5:c.417+1930C>G | NP_004825.3:n.417+1930C>G | |
| NM_145687.4:c.417+1930C>G | NP_663720.1:n.417+1930C>G | |
| NM_001384476.1:c.417+1930C>G | NP_001371405.1:n.417+1930C>G | |
| NM_001384477.1:c.417+1930C>G | NP_001371406.1:n.417+1930C>G | |
| NM_001384478.1:c.417+1930C>G | NP_001371407.1:n.417+1930C>G | |
| NM_001384481.1:c.417+1930C>G | NP_001371410.1:n.417+1930C>G | |
| NM_001384482.1:c.417+1930C>G | NP_001371411.1:n.417+1930C>G | |
| NM_001384483.1:c.417+1930C>G | NP_001371412.1:n.417+1930C>G | |
| NM_001384484.1:c.417+1930C>G | NP_001371413.1:n.417+1930C>G | |
| NM_001384485.1:c.417+1930C>G | NP_001371414.1:n.417+1930C>G | |
| NM_001384486.1:c.417+1930C>G | NP_001371415.1:n.417+1930C>G | |
| NM_001384487.1:c.417+1930C>G | NP_001371416.1:n.417+1930C>G | |
| NM_001384488.1:c.417+1930C>G | NP_001371417.1:n.417+1930C>G | |
| NM_001384490.1:c.417+1930C>G | NP_001371419.1:n.417+1930C>G | |
| NM_001384491.1:c.417+1930C>G | NP_001371420.1:n.417+1930C>G | |
| NM_001384492.1:c.417+1930C>G | NP_001371421.1:n.417+1930C>G | |
| NM_001384493.1:c.417+1930C>G | NP_001371422.1:n.417+1930C>G | |
| NM_001384494.1:c.417+1930C>G | NP_001371423.1:n.417+1930C>G | |
| NM_001384495.1:c.417+1930C>G | NP_001371424.1:n.417+1930C>G | |
| NM_001384496.1:c.417+1930C>G | NP_001371425.1:n.417+1930C>G | |
| NM_001384497.1:c.417+1930C>G | NP_001371426.1:n.417+1930C>G | |
| NM_001384506.1:c.417+1930C>G | NP_001371435.1:n.417+1930C>G | |
| NM_001384507.1:c.417+1930C>G | NP_001371436.1:n.417+1930C>G | |
| NM_001384508.1:c.417+1930C>G | NP_001371437.1:n.417+1930C>G | |
| NM_001384509.1:c.417+1930C>G | NP_001371438.1:n.417+1930C>G | |
| NM_001384520.1:c.417+1930C>G | NP_001371449.1:n.417+1930C>G | |
| NM_001384543.1:c.417+1930C>G | NP_001371472.1:n.417+1930C>G | |
| NM_001384548.1:c.417+1930C>G | NP_001371477.1:n.417+1930C>G | |
| NM_001384549.1:c.390+1930C>G | NP_001371478.1:n.390+1930C>G | |
| NM_001384550.1:c.390+1930C>G | NP_001371479.1:n.390+1930C>G | |
| NM_001384551.1:c.390+1930C>G | NP_001371480.1:n.390+1930C>G | |
| NM_001384552.1:c.390+1930C>G | NP_001371481.1:n.390+1930C>G | |
| NM_001384553.1:c.390+1930C>G | NP_001371482.1:n.390+1930C>G | |
| NM_001384554.1:c.390+1930C>G | NP_001371483.1:n.390+1930C>G | |
| NM_001384555.1:c.390+1930C>G | NP_001371484.1:n.390+1930C>G | |
| NM_001384556.1:c.390+1930C>G | NP_001371485.1:n.390+1930C>G | |
| NM_001384557.1:c.390+1930C>G | NP_001371486.1:n.390+1930C>G | |
| NM_001384558.1:c.390+1930C>G | NP_001371487.1:n.390+1930C>G | |
| NM_001384559.1:c.390+1930C>G | NP_001371488.1:n.390+1930C>G | |
| NM_001384560.1:c.390+1930C>G | NP_001371489.1:n.390+1930C>G | |
| NM_001384561.1:c.390+1930C>G | NP_001371490.1:n.390+1930C>G | |
| NM_001384562.1:c.390+1930C>G | NP_001371491.1:n.390+1930C>G | |
| NM_001384563.1:c.390+1930C>G | NP_001371492.1:n.390+1930C>G | |
| NM_001384564.1:c.390+1930C>G | NP_001371493.1:n.390+1930C>G | |
| NM_001384567.1:c.390+1930C>G | NP_001371496.1:n.390+1930C>G | |
| NM_001384572.1:c.390+1930C>G | NP_001371501.1:n.390+1930C>G | |
| NM_001384579.1:c.390+1930C>G | NP_001371508.1:n.390+1930C>G | |
| NM_145686.4:c.417+1930C>G | NP_663719.2:n.417+1930C>G | |
| NR_169279.1:n.791+1930C>G | ||
| NR_169280.1:n.791+1930C>G | ||
| NR_169281.1:n.791+1930C>G | ||
| NR_169282.1:n.791+1930C>G | ||
| NM_001395002.1:c.417+1930C>G MANE Select | NP_001381931.1:n.417+1930C>G |