Linked Data
ClinVar Variation Id:
2792642
ClinVar RCV Id:
RCV003603396
dbSNP Id:
rs1296087687
gnomAD v2:
11-64521020-G-A
gnomAD v4:
11-64753548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753548G>A , CM000673.2:g.64753548G>A | GRCh38 |
| NC_000011.9:g.64521020G>A , CM000673.1:g.64521020G>A | GRCh37 |
| NC_000011.8:g.64277596G>A | NCBI36 |
| NG_013018.1:g.12168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1374C>T MANE Select | ENSP00000164139.3:p.Arg458= | |
| ENST00000164139.3:c.1374C>T | ENSP00000164139.3:p.Arg458= | |
| ENST00000377432.7:c.1110C>T | ENSP00000366650.3:p.Arg370= | |
| NM_001164716.1:c.1110C>T | NP_001158188.1:p.Arg370= | |
| NM_005609.2:c.1374C>T | NP_005600.1:p.Arg458= | |
| NM_005609.3:c.1374C>T | NP_005600.1:p.Arg458= | |
| NM_005609.4:c.1374C>T MANE Select | NP_005600.1:p.Arg458= |