Linked Data
ClinVar Variation Id:
157508
ClinVar RCV Id:
RCV000144853
dbSNP Id:
rs606231255
gnomAD v3:
7-92671484-C-T
gnomAD v4:
7-92671484-C-T
PubMed:
PMID:23918663
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92671484C>T , CM000669.2:g.92671484C>T | GRCh38 |
| NC_000007.13:g.92300798C>T , CM000669.1:g.92300798C>T | GRCh37 |
| NC_000007.12:g.92138734C>T | NCBI36 |
| NG_015888.1:g.170144G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424848.3:c.589G>A MANE Select | ENSP00000397087.3:p.Ala197Thr | |
| ENST00000265734.8:c.589G>A | ENSP00000265734.4:p.Ala197Thr | |
| ENST00000424848.2:c.589G>A | ENSP00000397087.2:p.Ala197Thr | |
| ENST00000473078.1:n.137G>A | ||
| NM_001145306.1:c.589G>A | NP_001138778.1:p.Ala197Thr | |
| NM_001259.6:c.589G>A | NP_001250.1:p.Ala197Thr | |
| XM_006715835.1:c.589G>A | XP_006715898.1:p.Ala197Thr | |
| XM_011515731.1:c.589G>A | XP_011514033.1:p.Ala197Thr | |
| NM_001259.7:c.589G>A | NP_001250.1:p.Ala197Thr | |
| XM_006715835.2:c.589G>A | XP_006715898.1:p.Ala197Thr | |
| NM_001145306.2:c.589G>A MANE Select | NP_001138778.1:p.Ala197Thr | |
| NM_001259.8:c.589G>A | NP_001250.1:p.Ala197Thr |