Linked Data
ClinVar Variation Id:
910505
ClinVar RCV Id:
RCV001162334
dbSNP Id:
rs377479323
ExAC:
6:6167838 C / T
gnomAD v2:
6-6167838-C-T
gnomAD v3:
6-6167605-C-T
gnomAD v4:
6-6167605-C-T
COSMIC:
COSM3875049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6167605C>T , CM000668.2:g.6167605C>T | GRCh38 |
| NC_000006.11:g.6167838C>T , CM000668.1:g.6167838C>T | GRCh37 |
| NC_000006.10:g.6112837C>T | NCBI36 |
| NG_008107.1:g.158087G>A , LRG_549:g.158087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.1761G>A MANE Select | ENSP00000264870.3:p.Ala587= | |
| ENST00000264870.7:c.1761G>A | ENSP00000264870.3:p.Ala587= | |
| NM_000129.3:c.1761G>A , LRG_549t1:c.1761G>A | NP_000120.2:p.Ala587= | |
| XM_006715010.2:c.1761G>A | XP_006715073.1:p.Ala587= | |
| XM_011514342.1:c.1923G>A | XP_011512644.1:p.Ala641= | |
| NM_000129.4:c.1761G>A MANE Select | NP_000120.2:p.Ala587= |