Linked Data
dbSNP Id:
rs776291355
ExAC:
2:234183282 T / C
gnomAD v2:
2-234183282-T-C
gnomAD v3:
2-233274636-T-C
gnomAD v4:
2-233274636-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233274636T>C , CM000664.2:g.233274636T>C | GRCh38 |
| NC_000002.11:g.234183282T>C , CM000664.1:g.234183282T>C | GRCh37 |
| NC_000002.10:g.233848021T>C | NCBI36 |
| NG_023038.1:g.28066T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392017.9:c.852-40T>C MANE Select | ENSP00000375872.4:n.852-40T>C | |
| ENST00000347464.9:c.363-40T>C | ENSP00000318259.6:n.363-40T>C | |
| ENST00000373525.9:c.420-40T>C | ENSP00000362625.5:n.420-40T>C | |
| ENST00000392017.8:c.852-40T>C | ENSP00000375872.4:n.852-40T>C | |
| ENST00000392018.1:c.903-40T>C | ENSP00000375873.1:n.903-40T>C | |
| ENST00000392020.8:c.795-40T>C | ENSP00000375875.4:n.795-40T>C | |
| ENST00000392021.7:c.*733-40T>C | ENSP00000375876.3:n.*733-40T>C | |
| ENST00000419681.5:c.363-40T>C | ENSP00000398773.1:n.363-40T>C | |
| ENST00000444735.5:c.471-40T>C | ENSP00000409215.1:n.471-40T>C | |
| ENST00000474148.5:n.1647-40T>C | ||
| ENST00000479942.5:n.998-40T>C | ||
| ENST00000492298.5:n.333T>C | ||
| ENST00000498620.5:n.359-40T>C | ||
| NM_001190266.1:c.600-40T>C | NP_001177195.1:n.600-40T>C | |
| NM_001190267.1:c.504-40T>C | NP_001177196.1:n.504-40T>C | |
| NM_017974.3:c.795-40T>C | NP_060444.3:n.795-40T>C | |
| NM_030803.6:c.852-40T>C | NP_110430.5:n.852-40T>C | |
| NM_198890.2:c.363-40T>C | NP_942593.2:n.363-40T>C | |
| XM_005246082.1:c.903-40T>C | XP_005246139.1:n.903-40T>C | |
| XM_005246084.1:c.471-40T>C | XP_005246141.1:n.471-40T>C | |
| XM_005246086.1:c.420-40T>C | XP_005246143.1:n.420-40T>C | |
| XM_006712608.1:c.651-40T>C | XP_006712671.1:n.651-40T>C | |
| XR_241242.1:n.1097-40T>C | ||
| NM_001363742.1:c.903-40T>C | NP_001350671.1:n.903-40T>C | |
| XM_005246084.2:c.471-40T>C | XP_005246141.1:n.471-40T>C | |
| XM_005246086.2:c.420-40T>C | XP_005246143.1:n.420-40T>C | |
| XM_006712608.3:c.651-40T>C | XP_006712671.1:n.651-40T>C | |
| XR_001738801.2:n.1033-40T>C | ||
| XR_241242.3:n.1084-40T>C | ||
| NM_030803.7:c.852-40T>C MANE Select | NP_110430.5:n.852-40T>C | |
| NM_001190266.2:c.600-40T>C | NP_001177195.1:n.600-40T>C | |
| NM_001190267.2:c.504-40T>C | NP_001177196.1:n.504-40T>C | |
| NM_001363742.2:c.903-40T>C | NP_001350671.1:n.903-40T>C | |
| NM_017974.4:c.795-40T>C | NP_060444.3:n.795-40T>C | |
| NM_198890.3:c.363-40T>C | NP_942593.2:n.363-40T>C |