Linked Data
ClinVar Variation Id:
632
dbSNP Id:
rs76212747
ExAC:
12:103246701 A / G
gnomAD v2:
12-103246701-A-G
gnomAD v3:
12-102852923-A-G
gnomAD v4:
12-102852923-A-G
ERepo:
CA114372/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852923A>G , CM000674.2:g.102852923A>G | GRCh38 |
| NC_000012.11:g.103246701A>G , CM000674.1:g.103246701A>G | GRCh37 |
| NC_000012.10:g.101770831A>G | NCBI36 |
| NG_008690.1:g.69680T>C | |
| NG_008690.2:g.110488T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.734T>C MANE Select | ENSP00000448059.1:p.Val245Ala | |
| ENST00000307000.7:c.719T>C | ENSP00000303500.2:p.Val240Ala | |
| ENST00000549247.6:n.493T>C | ||
| ENST00000553106.5:c.734T>C | ENSP00000448059.1:p.Val245Ala | |
| NM_000277.1:c.734T>C | NP_000268.1:p.Val245Ala | |
| XM_011538422.1:c.734T>C | XP_011536724.1:p.Val245Ala | |
| NM_000277.2:c.734T>C | NP_000268.1:p.Val245Ala | |
| NM_001354304.1:c.734T>C | NP_001341233.1:p.Val245Ala | |
| NM_000277.3:c.734T>C MANE Select | NP_000268.1:p.Val245Ala | |
| NM_001354304.2:c.734T>C | NP_001341233.1:p.Val245Ala |