gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.83271015G>A , CM000666.2:g.83271015G>A | GRCh38 |
| NC_000004.11:g.84192168G>A , CM000666.1:g.84192168G>A | GRCh37 |
| NC_000004.10:g.84411192G>A | NCBI36 |
| NG_015825.1:g.18900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311469.9:c.779-1022C>T | ENSP00000310873.4:n.779-1022C>T | |
| ENST00000647002.2:c.629-1022C>T MANE Select | ENSP00000495761.2:n.629-1022C>T | |
| ENST00000311461.7:c.629-1022C>T | ENSP00000311835.7:n.629-1022C>T | |
| ENST00000311469.8:c.779-1022C>T | ENSP00000310873.4:n.779-1022C>T | |
| ENST00000503391.5:c.628+1072C>T | ENSP00000426242.1:n.628+1072C>T | |
| ENST00000503915.5:c.320-1022C>T | ENSP00000427146.1:n.320-1022C>T | |
| NM_015697.7:c.779-1022C>T | NP_056512.5:n.779-1022C>T | |
| XM_011531855.1:c.779-1022C>T | XP_011530157.1:n.779-1022C>T | |
| XM_011531856.1:c.779-1022C>T | XP_011530158.1:n.779-1022C>T | |
| XM_011531857.1:c.779-1022C>T | XP_011530159.1:n.779-1022C>T | |
| XM_011531858.1:c.779-1022C>T | XP_011530160.1:n.779-1022C>T | |
| XM_011531859.1:c.779-1022C>T | XP_011530161.1:n.779-1022C>T | |
| XM_011531860.1:c.779-1022C>T | XP_011530162.1:n.779-1022C>T | |
| XM_011531861.1:c.779-1022C>T | XP_011530163.1:n.779-1022C>T | |
| XM_011531862.1:c.779-1022C>T | XP_011530164.1:n.779-1022C>T | |
| XM_011531863.1:c.779-1022C>T | XP_011530165.1:n.779-1022C>T | |
| XM_011531864.1:c.779-1022C>T | XP_011530166.1:n.779-1022C>T | |
| XM_011531865.1:c.779-1022C>T | XP_011530167.1:n.779-1022C>T | |
| XM_011531866.1:c.779-1022C>T | XP_011530168.1:n.779-1022C>T | |
| XM_011531867.1:c.425-1022C>T | XP_011530169.1:n.425-1022C>T | |
| XR_427543.2:n.938-1022C>T | ||
| XR_938721.1:n.949-1022C>T | ||
| NM_001358921.1:c.629-1022C>T | NP_001345850.1:n.629-1022C>T | |
| NM_015697.8:c.779-1022C>T | NP_056512.5:n.779-1022C>T | |
| XM_011531855.3:c.629-1022C>T | XP_011530157.2:n.629-1022C>T | |
| XM_011531857.3:c.629-1022C>T | XP_011530159.2:n.629-1022C>T | |
| XM_011531859.3:c.629-1022C>T | XP_011530161.2:n.629-1022C>T | |
| XM_011531860.3:c.629-1022C>T | XP_011530162.2:n.629-1022C>T | |
| XM_011531862.3:c.629-1022C>T | XP_011530164.2:n.629-1022C>T | |
| XM_011531863.3:c.629-1022C>T | XP_011530165.2:n.629-1022C>T | |
| XM_011531866.3:c.629-1022C>T | XP_011530168.2:n.629-1022C>T | |
| XM_011531867.3:c.425-1022C>T | XP_011530169.1:n.425-1022C>T | |
| XM_017008031.2:c.425-1022C>T | XP_016863520.1:n.425-1022C>T | |
| XM_017008032.2:c.38-1022C>T | XP_016863521.1:n.38-1022C>T | |
| XR_001741203.2:n.660-1022C>T | ||
| XR_001741204.2:n.655-1022C>T | ||
| XR_427543.4:n.660-1022C>T | ||
| XR_938721.3:n.655-1022C>T | ||
| NM_001358921.2:c.629-1022C>T MANE Select | NP_001345850.1:n.629-1022C>T | |
| NM_015697.9:c.779-1022C>T | NP_056512.5:n.779-1022C>T |