Linked Data
dbSNP Id:
rs11001334
gnomAD v2:
10-76989295-C-T
gnomAD v3:
10-75229537-C-T
gnomAD v4:
10-75229537-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.75229537C>T , CM000672.2:g.75229537C>T | GRCh38 |
| NC_000010.10:g.76989295C>T , CM000672.1:g.76989295C>T | GRCh37 |
| NC_000010.9:g.76659301C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332211.11:c.736-107C>T MANE Select | ENSP00000361686.3:n.736-107C>T | |
| ENST00000298468.9:c.736-107C>T | ENSP00000298468.5:n.736-107C>T | |
| ENST00000313132.8:c.781-107C>T | ENSP00000361635.1:n.781-107C>T | |
| ENST00000332211.10:c.736-107C>T | ENSP00000361686.3:n.736-107C>T | |
| ENST00000460044.1:n.228C>T | ||
| ENST00000543351.5:c.736-107C>T | ENSP00000443092.1:n.736-107C>T | |
| NM_001184783.1:c.781-107C>T | NP_001171712.1:n.781-107C>T | |
| NM_001184823.1:c.736-107C>T | NP_001171752.1:n.736-107C>T | |
| NM_003375.3:c.736-107C>T | NP_003366.2:n.736-107C>T | |
| NR_033675.1:n.1262-107C>T | ||
| XM_006717961.1:c.736-107C>T | XP_006718024.1:n.736-107C>T | |
| XM_011540128.1:c.736-107C>T | XP_011538430.1:n.736-107C>T | |
| NM_001184783.2:c.781-107C>T | NP_001171712.1:n.781-107C>T | |
| NM_001324087.1:c.619-107C>T | NP_001311016.1:n.619-107C>T | |
| NM_001324088.1:c.736-107C>T | NP_001311017.1:n.736-107C>T | |
| NM_001324089.1:c.619-107C>T | NP_001311018.1:n.619-107C>T | |
| NM_001324090.1:c.619-107C>T | NP_001311019.1:n.619-107C>T | |
| NM_003375.4:c.736-107C>T | NP_003366.2:n.736-107C>T | |
| NM_001184783.3:c.781-107C>T | NP_001171712.1:n.781-107C>T | |
| NM_001184823.2:c.736-107C>T | NP_001171752.1:n.736-107C>T | |
| NM_001324087.2:c.619-107C>T | NP_001311016.1:n.619-107C>T | |
| NM_001324088.2:c.736-107C>T | NP_001311017.1:n.736-107C>T | |
| NM_001324089.2:c.619-107C>T | NP_001311018.1:n.619-107C>T | |
| NM_001324090.2:c.619-107C>T | NP_001311019.1:n.619-107C>T | |
| NM_001391963.1:c.736-107C>T MANE Select | NP_001378892.1:n.736-107C>T | |
| NM_003375.5:c.736-107C>T | NP_003366.2:n.736-107C>T |