Linked Data
ClinVar Variation Id:
6498
dbSNP Id:
rs121912645
ExAC:
2:10188503 G / T
gnomAD v2:
2-10188503-G-T
gnomAD v3:
2-10048376-G-T
gnomAD v4:
2-10048376-G-T
PubMed:
PMID:15774581
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10048376G>T , CM000664.2:g.10048376G>T | GRCh38 |
| NC_000002.11:g.10188503G>T , CM000664.1:g.10188503G>T | GRCh37 |
| NC_000002.10:g.10105954G>T | NCBI36 |
| NG_017199.1:g.9822G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305883.6:c.1039G>T MANE Select | ENSP00000307023.1:p.Ala347Ser | |
| ENST00000305883.5:c.1039G>T | ENSP00000307023.1:p.Ala347Ser | |
| ENST00000535335.1:c.988G>T | ENSP00000442722.1:p.Ala330Ser | |
| ENST00000540845.5:c.988G>T | ENSP00000444690.1:p.Ala330Ser | |
| NM_001177716.1:c.988G>T | NP_001171187.1:p.Ala330Ser | |
| NM_001177718.1:c.988G>T | NP_001171189.1:p.Ala330Ser | |
| NM_003597.4:c.1039G>T | NP_003588.1:p.Ala347Ser | |
| XM_005246179.3:c.988G>T | XP_005246236.1:p.Ala330Ser | |
| NM_003597.5:c.1039G>T MANE Select | NP_003588.1:p.Ala347Ser | |
| NM_001177716.2:c.988G>T | NP_001171187.1:p.Ala330Ser | |
| NM_001177718.2:c.988G>T | NP_001171189.1:p.Ala330Ser |