Linked Data
ClinVar Variation Id:
1916099
ClinVar RCV Id:
RCV002594328
dbSNP Id:
rs778249694
gnomAD v2:
19-4816305-C-A
gnomAD v4:
19-4816293-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816293C>A , CM000681.2:g.4816293C>A | GRCh38 |
| NC_000019.9:g.4816305C>A , CM000681.1:g.4816305C>A | GRCh37 |
| NC_000019.8:g.4767305C>A | NCBI36 |
| NG_031998.1:g.20450G>T , LRG_358:g.20450G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.2085G>T MANE Select | ENSP00000248244.4:p.Met695Ile | |
| ENST00000248244.5:c.2085G>T | ENSP00000248244.4:p.Met695Ile | |
| ENST00000621756.1:c.1587G>T | ENSP00000479467.1:p.Met529Ile | |
| NM_182919.3:c.2085G>T , LRG_358t1:c.2085G>T | NP_891549.1:p.Met695Ile | |
| NM_001385678.1:c.2043G>T | NP_001372607.1:p.Met681Ile | |
| NM_001385679.1:c.1950G>T | NP_001372608.1:p.Met650Ile | |
| NM_001385680.1:c.1443G>T | NP_001372609.1:p.Met481Ile | |
| NM_182919.4:c.2085G>T MANE Select | NP_891549.1:p.Met695Ile |