Linked Data
ClinVar Variation Id:
1527969
ClinVar RCV Id:
RCV002086755
dbSNP Id:
rs1587668852
gnomAD v4:
9-92719102-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92719102C>T , CM000671.2:g.92719102C>T | GRCh38 |
| NC_000009.11:g.95481384C>T , CM000671.1:g.95481384C>T | GRCh37 |
| NC_000009.10:g.94521205C>T | NCBI36 |
| NG_033908.1:g.50700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1543G>A MANE Select | ENSP00000349351.6:p.Glu515Lys | |
| ENST00000356884.10:c.1543G>A | ENSP00000349351.6:p.Glu515Lys | |
| ENST00000375512.3:c.1543G>A | ENSP00000364662.3:p.Glu515Lys | |
| NM_001003800.1:c.1543G>A | NP_001003800.1:p.Glu515Lys | |
| NM_015250.3:c.1543G>A | NP_056065.1:p.Glu515Lys | |
| XM_017014551.1:c.1624G>A | XP_016870040.1:p.Glu542Lys | |
| NM_001003800.2:c.1543G>A MANE Select | NP_001003800.1:p.Glu515Lys | |
| NM_015250.4:c.1543G>A | NP_056065.1:p.Glu515Lys |