Linked Data
dbSNP Id:
rs767405358
ExAC:
17:15903156 C / T
gnomAD v2:
17-15903156-C-T
gnomAD v3:
17-15999842-C-T
gnomAD v4:
17-15999842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999842C>T , CM000679.2:g.15999842C>T | GRCh38 |
| NC_000017.10:g.15903156C>T , CM000679.1:g.15903156C>T | GRCh37 |
| NC_000017.9:g.15843881C>T | NCBI36 |
| NG_029806.1:g.5463C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.-7C>T MANE Select | ENSP00000261647.5:n.-7C>T | |
| ENST00000261647.9:c.-7C>T | ENSP00000261647.5:n.-7C>T | |
| ENST00000466729.5:c.59C>T | ||
| ENST00000470399.1:c.9C>T | ENSP00000465082.1:p.Gly3= | |
| ENST00000475723.5:c.41C>T | ||
| ENST00000497842.6:n.19C>T | ||
| ENST00000583704.1:n.19C>T | ||
| NM_001271420.1:c.-465C>T | NP_001258349.1:n.-465C>T | |
| NM_017775.3:c.-7C>T | NP_060245.3:n.-7C>T | |
| XM_011523950.1:c.-7C>T | XP_011522252.1:n.-7C>T | |
| XM_017024801.2:c.-7C>T | XP_016880290.2:n.-7C>T | |
| XM_017024802.2:c.-7C>T | XP_016880291.2:n.-7C>T | |
| XM_024450814.1:c.-7C>T | XP_024306582.1:n.-7C>T | |
| NM_017775.4:c.-7C>T MANE Select | NP_060245.3:n.-7C>T | |
| NM_001271420.2:c.-465C>T | NP_001258349.1:n.-465C>T |