Linked Data
ClinVar Variation Id:
523137
ClinVar RCV Id:
RCV000626410
dbSNP Id:
rs1474000585
gnomAD v4:
1-219981454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219981454A>G , CM000663.2:g.219981454A>G | GRCh38 |
| NC_000001.10:g.220154796A>G , CM000663.1:g.220154796A>G | GRCh37 |
| NC_000001.9:g.218221419A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366923.8:c.3377T>C MANE Select | ENSP00000355890.3:p.Met1126Thr | |
| ENST00000366923.7:c.3377T>C | ENSP00000355890.3:p.Met1126Thr | |
| NM_004446.2:c.3377T>C | NP_004437.2:p.Met1126Thr | |
| XM_017000614.2:c.1799T>C | XP_016856103.1:p.Met600Thr | |
| NM_004446.3:c.3377T>C MANE Select | NP_004437.2:p.Met1126Thr |