Linked Data
ClinVar Variation Id:
1001072
ClinVar RCV Id:
RCV001297301
dbSNP Id:
rs752768415
gnomAD v4:
19-4816627-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816627A>G , CM000681.2:g.4816627A>G | GRCh38 |
| NC_000019.9:g.4816639A>G , CM000681.1:g.4816639A>G | GRCh37 |
| NC_000019.8:g.4767639A>G | NCBI36 |
| NG_031998.1:g.20116T>C , LRG_358:g.20116T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1751T>C MANE Select | ENSP00000248244.4:p.Met584Thr | |
| ENST00000248244.5:c.1751T>C | ENSP00000248244.4:p.Met584Thr | |
| ENST00000621756.1:c.1334T>C | ENSP00000479467.1:p.Met445Thr | |
| NM_182919.3:c.1751T>C , LRG_358t1:c.1751T>C | NP_891549.1:p.Met584Thr | |
| NM_001385678.1:c.1709T>C | NP_001372607.1:p.Met570Thr | |
| NM_001385679.1:c.1616T>C | NP_001372608.1:p.Met539Thr | |
| NM_001385680.1:c.1109T>C | NP_001372609.1:p.Met370Thr | |
| NM_182919.4:c.1751T>C MANE Select | NP_891549.1:p.Met584Thr |