Linked Data
ClinVar Variation Id:
11040
dbSNP Id:
rs132630317
gnomAD v4:
X-70035478-G-A
PubMed:
PMID:9683615
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70035478G>A , CM000685.2:g.70035478G>A | GRCh38 |
| NC_000023.10:g.69255328G>A , CM000685.1:g.69255328G>A | GRCh37 |
| NC_000023.9:g.69172053G>A | NCBI36 |
| NG_009809.1:g.424418G>A | |
| NG_009809.2:g.424412G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.1045G>A MANE Select | ENSP00000363680.4:p.Ala349Thr | |
| ENST00000374552.8:c.1045G>A | ENSP00000363680.4:p.Ala349Thr | |
| ENST00000374553.6:c.1039G>A | ENSP00000363681.2:p.Ala347Thr | |
| ENST00000524573.5:c.1030G>A | ENSP00000432585.1:p.Ala344Thr | |
| ENST00000616899.1:c.649G>A | ENSP00000481963.1:p.Ala217Thr | |
| NM_001005609.1:c.1039G>A | NP_001005609.1:p.Ala347Thr | |
| NM_001005612.2:c.1030G>A | NP_001005612.2:p.Ala344Thr | |
| NM_001399.4:c.1045G>A | NP_001390.1:p.Ala349Thr | |
| XM_006724630.2:c.1036G>A | XP_006724693.1:p.Ala346Thr | |
| XM_017029336.1:c.1003G>A | XP_016884825.1:p.Ala335Thr | |
| NM_001399.5:c.1045G>A MANE Select | NP_001390.1:p.Ala349Thr | |
| NM_001005609.2:c.1039G>A | NP_001005609.1:p.Ala347Thr | |
| NM_001005612.3:c.1030G>A | NP_001005612.2:p.Ala344Thr |