Linked Data
ClinVar Variation Id:
215036
ClinVar RCV Id:
RCV000196531
dbSNP Id:
rs863224173
gnomAD v4:
12-131941565-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941565T>C , CM000674.2:g.131941565T>C | GRCh38 |
| NC_000012.11:g.132426110T>C , CM000674.1:g.132426110T>C | GRCh37 |
| NC_000012.10:g.130992063T>C | NCBI36 |
| NG_013039.1:g.17366T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.818T>C MANE Select | ENSP00000365837.3:p.Val273Ala | |
| ENST00000322060.9:c.734T>C | ENSP00000324726.5:p.Val245Ala | |
| ENST00000376649.7:c.818T>C | ENSP00000365837.3:p.Val273Ala | |
| ENST00000443358.6:c.734T>C | ENSP00000392451.2:p.Val245Ala | |
| ENST00000535067.5:c.358-1974T>C | ENSP00000443969.1:n.358-1974T>C | |
| ENST00000542167.2:c.659T>C | ENSP00000438948.1:p.Val220Ala | |
| ENST00000543754.1:n.639T>C | ||
| NM_001002019.2:c.734T>C | NP_001002019.1:p.Val245Ala | |
| NM_001002020.2:c.734T>C | NP_001002020.1:p.Val245Ala | |
| NM_025215.5:c.818T>C | NP_079491.2:p.Val273Ala | |
| XM_011538768.1:c.419T>C | XP_011537070.1:p.Val140Ala | |
| XM_011538768.3:c.419T>C | XP_011537070.1:p.Val140Ala | |
| XR_001748872.1:n.1273T>C | ||
| NM_001002019.3:c.734T>C | NP_001002019.1:p.Val245Ala | |
| NM_001002020.3:c.734T>C | NP_001002020.1:p.Val245Ala | |
| NM_025215.6:c.818T>C MANE Select | NP_079491.2:p.Val273Ala |