Linked Data
ClinVar Variation Id:
332876
ClinVar RCV Id:
RCV000264192
RCV000304053
RCV000322272
RCV000352942
RCV000408205
RCV000555009
RCV000607770
RCV001718703
dbSNP Id:
rs373511249
ExAC:
2:179505366 T / C
gnomAD v2:
2-179505366-T-C
gnomAD v3:
2-178640639-T-C
gnomAD v4:
2-178640639-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178640639T>C , CM000664.2:g.178640639T>C | GRCh38 |
| NC_000002.11:g.179505366T>C , CM000664.1:g.179505366T>C | GRCh37 |
| NC_000002.10:g.179213611T>C | NCBI36 |
| NG_011618.3:g.195164A>G , LRG_391:g.195164A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.32930-9A>G | ENSP00000343764.6:n.32930-9A>G | |
| ENST00000342175.11:c.14015-9A>G | ENSP00000340554.6:n.14015-9A>G | |
| ENST00000359218.10:c.13814-9A>G | ENSP00000352154.5:n.13814-9A>G | |
| ENST00000342175.10:c.14015-9A>G | ENSP00000340554.6:n.14015-9A>G | |
| ENST00000342992.10:c.32930-9A>G | ENSP00000343764.6:n.32930-9A>G | |
| ENST00000359218.9:c.13814-9A>G | ENSP00000352154.5:n.13814-9A>G | |
| ENST00000414766.5:c.2597-9A>G | ENSP00000401501.1:n.2597-9A>G | |
| ENST00000426232.5:c.597-9A>G | ||
| ENST00000446966.1:c.995-9A>G | ENSP00000408004.1:n.995-9A>G | |
| ENST00000460472.6:c.13439-9A>G | ENSP00000434586.1:n.13439-9A>G | |
| ENST00000589042.5:c.40634-9A>G MANE Select | ENSP00000467141.1:n.40634-9A>G | |
| ENST00000591111.5:c.35711-9A>G | ENSP00000465570.1:n.35711-9A>G | |
| ENST00000615779.4:c.35711-9A>G | ENSP00000483597.1:n.35711-9A>G | |
| NM_001256850.1:c.35711-9A>G | NP_001243779.1:n.35711-9A>G | |
| NM_001267550.2:c.40634-9A>G MANE Select | NP_001254479.2:n.40634-9A>G | |
| NM_003319.4:c.13439-9A>G | NP_003310.4:n.13439-9A>G | |
| NM_133378.4:c.32930-9A>G | NP_596869.4:n.32930-9A>G | |
| NM_133432.3:c.13814-9A>G | NP_597676.3:n.13814-9A>G | |
| NM_133437.4:c.14015-9A>G | NP_597681.4:n.14015-9A>G | |
| XM_011511729.1:c.39731-9A>G | XP_011510031.1:n.39731-9A>G | |
| XM_011511730.1:c.13625-9A>G | XP_011510032.1:n.13625-9A>G | |
| XM_011511731.1:c.13484-9A>G | XP_011510033.1:n.13484-9A>G | |
| XM_017004819.1:c.39527-9A>G | XP_016860308.1:n.39527-9A>G | |
| XM_017004820.1:c.34925-9A>G | XP_016860309.1:n.34925-9A>G | |
| XM_017004821.1:c.34922-9A>G | XP_016860310.1:n.34922-9A>G | |
| XM_017004822.1:c.32015-9A>G | XP_016860311.1:n.32015-9A>G | |
| XM_017004823.1:c.13580-9A>G | XP_016860312.1:n.13580-9A>G | |
| XM_024453094.1:c.35075-9A>G | XP_024308862.1:n.35075-9A>G | |
| XM_024453095.1:c.35072-9A>G | XP_024308863.1:n.35072-9A>G | |
| XM_024453096.1:c.34505-9A>G | XP_024308864.1:n.34505-9A>G | |
| XM_024453097.1:c.31847-9A>G | XP_024308865.1:n.31847-9A>G | |
| XM_024453098.1:c.31766-9A>G | XP_024308866.1:n.31766-9A>G | |
| XM_024453099.1:c.13580-9A>G | XP_024308867.1:n.13580-9A>G | |
| XM_024453100.1:c.3383-9A>G | XP_024308868.1:n.3383-9A>G |