Linked Data
dbSNP Id:
rs874881
ExAC:
1:17660499 G / T
gnomAD v2:
1-17660499-G-T
gnomAD v3:
1-17334004-G-T
gnomAD v4:
1-17334004-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17334004G>T , CM000663.2:g.17334004G>T | GRCh38 |
| NC_000001.10:g.17660499G>T , CM000663.1:g.17660499G>T | GRCh37 |
| NC_000001.9:g.17533086G>T | NCBI36 |
| NG_023261.2:g.30815G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.335G>T MANE Select | ENSP00000364597.4:p.Gly112Val | |
| ENST00000375453.5:c.335G>T | ENSP00000364602.1:p.Gly112Val | |
| NM_012387.2:c.335G>T | NP_036519.2:p.Gly112Val | |
| XM_011541150.1:c.335G>T | XP_011539452.1:p.Gly112Val | |
| XM_011541151.1:c.335G>T | XP_011539453.1:p.Gly112Val | |
| XM_011541152.1:c.-85G>T | XP_011539454.1:n.-85G>T | |
| XM_011541153.1:c.335G>T | XP_011539455.1:p.Gly112Val | |
| XM_011541154.1:c.335G>T | XP_011539456.1:p.Gly112Val | |
| XM_011541155.1:c.335G>T | XP_011539457.1:p.Gly112Val | |
| XM_011541156.1:c.335G>T | XP_011539458.1:p.Gly112Val | |
| XM_011541157.1:c.-378G>T | XP_011539459.1:n.-378G>T | |
| XM_011541154.2:c.335G>T | XP_011539456.1:p.Gly112Val | |
| NM_012387.3:c.335G>T MANE Select | NP_036519.2:p.Gly112Val |