Linked Data
ClinVar Variation Id:
404402
ClinVar RCV Id:
RCV001837907
dbSNP Id:
rs1060500236
gnomAD v4:
2-21015186-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015186C>T , CM000664.2:g.21015186C>T | GRCh38 |
| NC_000002.11:g.21238058C>T , CM000664.1:g.21238058C>T | GRCh37 |
| NC_000002.10:g.21091563C>T | NCBI36 |
| NG_011793.1:g.33888G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2889G>A | ENSP00000501110.2:n.*2889G>A | |
| ENST00000673882.2:c.*2678G>A | ENSP00000501253.2:n.*2678G>A | |
| ENST00000673739.1:c.3297G>A | ENSP00000501110.1:n.3297G>A | |
| ENST00000673882.1:c.3086G>A | ENSP00000501253.1:n.3086G>A | |
| ENST00000233242.5:c.3583G>A MANE Select | ENSP00000233242.1:p.Val1195Met | |
| ENST00000616098.4:c.3583G>A | ENSP00000477990.1:p.Val1195Met | |
| NM_000384.2:c.3583G>A | NP_000375.2:p.Val1195Met | |
| XM_011532809.1:c.3583G>A | XP_011531111.1:p.Val1195Met | |
| NM_000384.3:c.3583G>A MANE Select | NP_000375.3:p.Val1195Met |