Linked Data
dbSNP Id:
rs772147268
ExAC:
19:4816411 G / T
gnomAD v2:
19-4816411-G-T
gnomAD v4:
19-4816399-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816399G>T , CM000681.2:g.4816399G>T | GRCh38 |
| NC_000019.9:g.4816411G>T , CM000681.1:g.4816411G>T | GRCh37 |
| NC_000019.8:g.4767411G>T | NCBI36 |
| NG_031998.1:g.20344C>A , LRG_358:g.20344C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1979C>A MANE Select | ENSP00000248244.4:p.Ser660Tyr | |
| ENST00000248244.5:c.1979C>A | ENSP00000248244.4:p.Ser660Tyr | |
| ENST00000621756.1:c.1481C>A | ENSP00000479467.1:p.Ser494Tyr | |
| NM_182919.3:c.1979C>A , LRG_358t1:c.1979C>A | NP_891549.1:p.Ser660Tyr | |
| NM_001385678.1:c.1937C>A | NP_001372607.1:p.Ser646Tyr | |
| NM_001385679.1:c.1844C>A | NP_001372608.1:p.Ser615Tyr | |
| NM_001385680.1:c.1337C>A | NP_001372609.1:p.Ser446Tyr | |
| NM_182919.4:c.1979C>A MANE Select | NP_891549.1:p.Ser660Tyr |