Linked Data
ClinVar Variation Id:
1562146
ClinVar RCV Id:
RCV002212391
dbSNP Id:
rs1207505931
gnomAD v2:
X-22065273-T-A
gnomAD v3:
X-22047155-T-A
gnomAD v4:
X-22047155-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22047155T>A , CM000685.2:g.22047155T>A | GRCh38 |
| NC_000023.10:g.22065273T>A , CM000685.1:g.22065273T>A | GRCh37 |
| NC_000023.9:g.21975194T>A | NCBI36 |
| NG_007563.2:g.19353T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.719T>A | ||
| ENST00000683214.1:n.544+14032T>A | ||
| ENST00000684143.1:c.293T>A | ENSP00000508264.1:p.Met98Lys | |
| ENST00000379374.5:c.293T>A MANE Select | ENSP00000368682.4:p.Met98Lys | |
| ENST00000379374.4:c.293T>A | ENSP00000368682.4:p.Met98Lys | |
| NM_000444.5:c.293T>A | NP_000435.3:p.Met98Lys | |
| NM_001282754.1:c.293T>A | NP_001269683.1:p.Met98Lys | |
| XM_011545535.1:c.293T>A | XP_011543837.1:p.Met98Lys | |
| XM_024452390.1:c.2T>A | XP_024308158.1:p.Met1Lys | |
| XR_001755695.1:n.972T>A | ||
| NM_000444.6:c.293T>A MANE Select | NP_000435.3:p.Met98Lys | |
| NM_001282754.2:c.293T>A | NP_001269683.1:p.Met98Lys |