Linked Data
ClinVar Variation Id:
1712481
ClinVar RCV Id:
RCV002294736
gnomAD v4:
19-39482916-G-A
COSMIC:
COSM1481041
MutSpliceDB:
CA405786427
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39482916G>A , CM000681.2:g.39482916G>A | GRCh38 |
| NC_000019.9:g.39973556G>A , CM000681.1:g.39973556G>A | GRCh37 |
| NC_000019.8:g.44665396G>A | NCBI36 |
| NG_051245.1:g.7505G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607714.6:c.291G>A MANE Select | ENSP00000475531.1:p.Lys97= | |
| ENST00000314349.8:c.600G>A | ENSP00000318115.3:p.Lys200= | |
| ENST00000544017.5:c.600G>A | ENSP00000445806.2:p.Lys200= | |
| ENST00000594583.2:c.275G>A | ||
| ENST00000595286.1:n.287G>A | ||
| ENST00000597666.5:c.140G>A | ENSP00000472723.2:p.Arg47Lys | |
| ENST00000597782.5:c.263G>A | ||
| ENST00000598125.5:n.299G>A | ||
| ENST00000599733.5:c.217G>A | ||
| ENST00000599794.5:c.108+1955G>A | ENSP00000472524.2:n.108+1955G>A | |
| ENST00000601358.5:c.291G>A | ENSP00000472476.2:p.Lys97= | |
| ENST00000601403.5:c.259+883G>A | ENSP00000472184.2:n.259+883G>A | |
| ENST00000602028.5:c.289G>A | ||
| ENST00000602265.5:c.217G>A | ||
| ENST00000607714.5:c.291G>A | ENSP00000475531.1:p.Lys97= | |
| NM_001001563.1:c.600G>A | NP_001001563.1:p.Lys200= | |
| XM_011527491.1:c.255G>A | XP_011525793.1:p.Lys85= | |
| NM_001001563.4:c.291G>A | NP_001001563.2:p.Lys97= | |
| NM_001329559.1:c.11G>A | NP_001316488.1:p.Arg4Lys | |
| XM_011527491.3:c.255G>A | XP_011525793.1:p.Lys85= | |
| NM_001001563.5:c.291G>A MANE Select | NP_001001563.2:p.Lys97= | |
| NM_001329559.2:c.11G>A | NP_001316488.1:p.Arg4Lys |