UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs8038652
gnomAD v2:
15-67552064-G-A
gnomAD v3:
15-67259726-G-A
gnomAD v4:
15-67259726-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67259726G>A , CM000677.2:g.67259726G>A | GRCh38 |
| NC_000015.9:g.67552064G>A , CM000677.1:g.67552064G>A | GRCh37 |
| NC_000015.8:g.65339118G>A | NCBI36 |
| NG_033007.1:g.473C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335894.9:c.52-1546G>A MANE Select | ENSP00000336861.4:n.52-1546G>A | |
| ENST00000335894.8:c.52-1546G>A | ENSP00000336861.4:n.52-1546G>A | |
| ENST00000512104.5:c.52-1546G>A | ENSP00000427323.1:n.52-1546G>A | |
| ENST00000514049.5:c.52-1546G>A | ENSP00000421223.1:n.52-1546G>A | |
| ENST00000535744.5:c.52-1546G>A | ENSP00000441306.1:n.52-1546G>A | |
| ENST00000559568.5:c.51+4779G>A | ENSP00000453749.1:n.51+4779G>A | |
| ENST00000560497.1:n.286-1546G>A | ||
| ENST00000629425.2:c.-134-1546G>A | ENSP00000486970.1:n.-134-1546G>A | |
| NM_001031715.2:c.52-1546G>A | NP_001026885.1:n.52-1546G>A | |
| NM_001284347.1:c.-242-1546G>A | NP_001271276.1:n.-242-1546G>A | |
| NM_001284348.1:c.-465-1546G>A | NP_001271277.1:n.-465-1546G>A | |
| NM_001284349.1:c.-134-1546G>A | NP_001271278.1:n.-134-1546G>A | |
| NM_022784.2:c.52-1546G>A | NP_073621.2:n.52-1546G>A | |
| XM_011521907.1:c.52-1546G>A | XP_011520209.1:n.52-1546G>A | |
| XM_011521908.1:c.52-1546G>A | XP_011520210.1:n.52-1546G>A | |
| XM_011521909.1:c.52-1546G>A | XP_011520211.1:n.52-1546G>A | |
| XM_011521910.1:c.52-1546G>A | XP_011520212.1:n.52-1546G>A | |
| XM_011521911.1:c.52-1546G>A | XP_011520213.1:n.52-1546G>A | |
| XM_011521912.1:c.52-1546G>A | XP_011520214.1:n.52-1546G>A | |
| XM_011521913.1:c.52-1546G>A | XP_011520215.1:n.52-1546G>A | |
| XM_011521915.1:c.52-1546G>A | XP_011520217.1:n.52-1546G>A | |
| XM_011521918.1:c.-134-1546G>A | XP_011520220.1:n.-134-1546G>A | |
| XM_011521920.1:c.-465-1546G>A | XP_011520222.1:n.-465-1546G>A | |
| XM_011521921.1:c.-242-1546G>A | XP_011520223.1:n.-242-1546G>A | |
| XM_011521922.1:c.52-1546G>A | XP_011520224.1:n.52-1546G>A | |
| XM_011521923.1:c.52-1546G>A | XP_011520225.1:n.52-1546G>A | |
| XR_931884.1:n.171-1546G>A | ||
| XR_931885.1:n.174-1546G>A | ||
| NM_001322470.1:c.-134-1546G>A | NP_001309399.1:n.-134-1546G>A | |
| NM_001322471.1:c.-242-1546G>A | NP_001309400.1:n.-242-1546G>A | |
| NM_001322472.1:c.-242-1546G>A | NP_001309401.1:n.-242-1546G>A | |
| NM_001322473.1:c.-134-1546G>A | NP_001309402.1:n.-134-1546G>A | |
| NM_001322474.1:c.-134-1546G>A | NP_001309403.1:n.-134-1546G>A | |
| NM_001322475.1:c.-252-1546G>A | NP_001309404.1:n.-252-1546G>A | |
| NR_147832.1:n.149-1546G>A | ||
| XM_011521907.2:c.52-1546G>A | XP_011520209.1:n.52-1546G>A | |
| XM_011521908.2:c.52-1546G>A | XP_011520210.1:n.52-1546G>A | |
| XM_011521911.2:c.52-1546G>A | XP_011520213.1:n.52-1546G>A | |
| XM_011521912.2:c.52-1546G>A | XP_011520214.1:n.52-1546G>A | |
| XM_011521913.2:c.52-1546G>A | XP_011520215.1:n.52-1546G>A | |
| XM_011521915.2:c.52-1546G>A | XP_011520217.1:n.52-1546G>A | |
| XM_011521918.2:c.-134-1546G>A | XP_011520220.1:n.-134-1546G>A | |
| XM_011521922.3:c.52-1546G>A | XP_011520224.1:n.52-1546G>A | |
| XM_011521923.2:c.52-1546G>A | XP_011520225.1:n.52-1546G>A | |
| XM_017022491.1:c.52-1546G>A | XP_016877980.1:n.52-1546G>A | |
| XM_017022492.2:c.52-1546G>A | XP_016877981.1:n.52-1546G>A | |
| XM_017022494.2:c.52-1546G>A | XP_016877983.1:n.52-1546G>A | |
| XM_017022495.1:c.52-1546G>A | XP_016877984.1:n.52-1546G>A | |
| XM_017022497.1:c.52-1546G>A | XP_016877986.1:n.52-1546G>A | |
| XM_017022498.1:c.52-1546G>A | XP_016877987.1:n.52-1546G>A | |
| XM_017022499.1:c.52-1546G>A | XP_016877988.1:n.52-1546G>A | |
| XM_017022500.1:c.-252-1546G>A | XP_016877989.1:n.-252-1546G>A | |
| XM_017022501.1:c.-134-1546G>A | XP_016877990.1:n.-134-1546G>A | |
| XM_017022503.1:c.-242-1546G>A | XP_016877992.1:n.-242-1546G>A | |
| XM_017022504.2:c.-242-1546G>A | XP_016877993.1:n.-242-1546G>A | |
| XM_024450020.1:c.52-1546G>A | XP_024305788.1:n.52-1546G>A | |
| XM_024450021.1:c.52-1546G>A | XP_024305789.1:n.52-1546G>A | |
| XM_024450022.1:c.-181-1546G>A | XP_024305790.1:n.-181-1546G>A | |
| XM_024450023.1:c.-449-1546G>A | XP_024305791.1:n.-449-1546G>A | |
| XM_024450024.1:c.-347-1546G>A | XP_024305792.1:n.-347-1546G>A | |
| XM_024450025.1:c.-465-1546G>A | XP_024305793.1:n.-465-1546G>A | |
| XM_024450026.1:c.-242-1546G>A | XP_024305794.1:n.-242-1546G>A | |
| XR_001751377.1:n.176-1546G>A | ||
| XR_931884.2:n.174-1546G>A | ||
| NM_001031715.3:c.52-1546G>A MANE Select | NP_001026885.2:n.52-1546G>A | |
| NM_001284347.2:c.-242-1546G>A | NP_001271276.2:n.-242-1546G>A | |
| NM_001284348.2:c.-465-1546G>A | NP_001271277.2:n.-465-1546G>A | |
| NM_001322470.2:c.-134-1546G>A | NP_001309399.1:n.-134-1546G>A | |
| NM_001322471.2:c.-242-1546G>A | NP_001309400.1:n.-242-1546G>A | |
| NM_001322472.2:c.-242-1546G>A | NP_001309401.1:n.-242-1546G>A | |
| NM_001322473.2:c.-134-1546G>A | NP_001309402.1:n.-134-1546G>A | |
| NM_001322474.2:c.-134-1546G>A | NP_001309403.1:n.-134-1546G>A | |
| NM_001322475.2:c.-252-1546G>A | NP_001309404.2:n.-252-1546G>A | |
| NM_022784.3:c.52-1546G>A | NP_073621.2:n.52-1546G>A | |
| NR_147832.2:n.163-1546G>A | ||
| NM_001284349.2:c.-134-1546G>A | NP_001271278.1:n.-134-1546G>A |