Linked Data
ClinVar Variation Id:
1234
dbSNP Id:
rs121908284
gnomAD v2:
8-43048967-T-A
gnomAD v3:
8-43193824-T-A
gnomAD v4:
8-43193824-T-A
PubMed:
PMID:17033958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43193824T>A , CM000670.2:g.43193824T>A | GRCh38 |
| NC_000008.10:g.43048967T>A , CM000670.1:g.43048967T>A | GRCh37 |
| NC_000008.9:g.43168124T>A | NCBI36 |
| NG_009552.1:g.58376T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1445T>A MANE Select | ENSP00000368965.4:p.Met482Lys | |
| ENST00000379644.8:c.1445T>A | ENSP00000368965.4:p.Met482Lys | |
| ENST00000520678.1:n.378T>A | ||
| ENST00000521576.1:c.596T>A | ENSP00000429029.1:p.Met199Lys | |
| ENST00000524016.5:c.549T>A | ||
| NM_152419.2:c.1445T>A | NP_689632.2:p.Met482Lys | |
| XM_005273409.1:c.1445T>A | XP_005273466.1:p.Met482Lys | |
| XM_005273410.1:c.1445T>A | XP_005273467.1:p.Met482Lys | |
| XM_005273411.1:c.1253T>A | XP_005273468.1:p.Met418Lys | |
| XM_005273412.2:c.1445T>A | XP_005273469.1:p.Met482Lys | |
| NM_001363227.1:c.1445T>A | NP_001350156.1:p.Met482Lys | |
| NM_001363228.1:c.1253T>A | NP_001350157.1:p.Met418Lys | |
| NM_001363229.1:c.581T>A | NP_001350158.1:p.Met194Lys | |
| XM_005273412.4:c.1445T>A | XP_005273469.1:p.Met482Lys | |
| NM_152419.3:c.1445T>A MANE Select | NP_689632.2:p.Met482Lys | |
| NM_001363227.2:c.1445T>A | NP_001350156.1:p.Met482Lys | |
| NM_001363228.2:c.1253T>A | NP_001350157.1:p.Met418Lys | |
| NM_001363229.2:c.581T>A | NP_001350158.1:p.Met194Lys |