Linked Data
ClinVar Variation Id:
372797
dbSNP Id:
rs201258823
ExAC:
8:105436573 G / T
gnomAD v2:
8-105436573-G-T
gnomAD v3:
8-104424345-G-T
gnomAD v4:
8-104424345-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104424345G>T , CM000670.2:g.104424345G>T | GRCh38 |
| NC_000008.10:g.105436573G>T , CM000670.1:g.105436573G>T | GRCh37 |
| NC_000008.9:g.105505749G>T | NCBI36 |
| NG_008840.1:g.47705C>A | |
| NG_008840.2:g.47705C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351513.7:c.1137C>A MANE Select | ENSP00000276651.2:p.Ser379Arg | |
| ENST00000351513.6:c.1137C>A | ENSP00000276651.2:p.Ser379Arg | |
| NM_001385.2:c.1137C>A | NP_001376.1:p.Ser379Arg | |
| XM_005250818.2:c.1137C>A | XP_005250875.1:p.Ser379Arg | |
| XM_006716518.2:c.978C>A | XP_006716581.1:p.Ser326Arg | |
| XM_011516903.1:c.1137C>A | XP_011515205.1:p.Ser379Arg | |
| XM_011516904.1:c.1137C>A | XP_011515206.1:p.Ser379Arg | |
| XM_005250818.3:c.1137C>A | XP_005250875.1:p.Ser379Arg | |
| XM_006716518.3:c.978C>A | XP_006716581.1:p.Ser326Arg | |
| XM_011516903.3:c.1137C>A | XP_011515205.1:p.Ser379Arg | |
| XM_017013167.2:c.1137C>A | XP_016868656.1:p.Ser379Arg | |
| XM_024447087.1:c.1137C>A | XP_024302855.1:p.Ser379Arg | |
| XR_001745489.1:n.1291C>A | ||
| XR_001745490.2:n.1291C>A | ||
| NM_001385.3:c.1137C>A MANE Select | NP_001376.1:p.Ser379Arg |