Linked Data
ClinVar Variation Id:
381580
dbSNP Id:
rs566453434
ExAC:
9:97365839 C / T
gnomAD v2:
9-97365839-C-T
gnomAD v3:
9-94603557-C-T
gnomAD v4:
9-94603557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94603557C>T , CM000671.2:g.94603557C>T | GRCh38 |
| NC_000009.11:g.97365839C>T , CM000671.1:g.97365839C>T | GRCh37 |
| NC_000009.10:g.96405660C>T | NCBI36 |
| NG_008174.1:g.41693G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.1001G>A | ENSP00000507547.1:n.1001G>A | |
| ENST00000375326.9:c.841G>A MANE Select | ENSP00000364475.5:p.Glu281Lys | |
| ENST00000648117.1:c.646G>A | ENSP00000498145.1:p.Glu216Lys | |
| ENST00000375326.8:c.841G>A | ENSP00000364475.4:p.Glu281Lys | |
| ENST00000415431.5:c.841G>A | ENSP00000408025.1:p.Glu281Lys | |
| NM_000507.3:c.841G>A | NP_000498.2:p.Glu281Lys | |
| NM_001127628.1:c.841G>A | NP_001121100.1:p.Glu281Lys | |
| XM_006717005.2:c.595G>A | XP_006717068.1:p.Glu199Lys | |
| XM_006717005.4:c.595G>A | XP_006717068.1:p.Glu199Lys | |
| NM_000507.4:c.841G>A MANE Select | NP_000498.2:p.Glu281Lys | |
| NM_001127628.2:c.841G>A | NP_001121100.1:p.Glu281Lys |