Linked Data
ClinVar Variation Id:
1013627
ClinVar RCV Id:
RCV001312244
dbSNP Id:
rs1355036934
gnomAD v4:
X-100669281-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100669281A>G , CM000685.2:g.100669281A>G | GRCh38 |
| NC_000023.10:g.99924278A>G , CM000685.1:g.99924278A>G | GRCh37 |
| NC_000023.9:g.99810934A>G | NCBI36 |
| NG_021337.1:g.30116A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.1129A>G MANE Select | ENSP00000362095.3:p.Thr377Ala | |
| ENST00000638920.1:n.1132A>G | ||
| ENST00000640282.1:c.142-1526A>G | ENSP00000491188.1:n.142-1526A>G | |
| ENST00000373004.3:c.1129A>G | ENSP00000362095.3:p.Thr377Ala | |
| NM_014467.2:c.1129A>G | NP_055282.1:p.Thr377Ala | |
| XM_005262121.2:c.1129A>G | XP_005262178.1:p.Thr377Ala | |
| NM_014467.3:c.1129A>G MANE Select | NP_055282.1:p.Thr377Ala |