Linked Data
ClinVar Variation Id:
17770
ClinVar RCV Id:
RCV000019347
dbSNP Id:
rs121912750
PubMed:
PMID:9973643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251305T>C , CM000679.2:g.44251305T>C | GRCh38 |
| NC_000017.10:g.42328673T>C , CM000679.1:g.42328673T>C | GRCh37 |
| NC_000017.9:g.39684199T>C | NCBI36 |
| NG_007498.1:g.21830A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262418.12:c.2509A>G MANE Select | ENSP00000262418.6:p.Thr837Ala | |
| ENST00000262418.10:c.2509A>G | ENSP00000262418.6:p.Thr837Ala | |
| ENST00000399246.3:c.1411A>G | ENSP00000382190.3:p.Thr471Ala | |
| NM_000342.3:c.2509A>G | NP_000333.1:p.Thr837Ala | |
| XM_005257593.3:c.2314A>G | XP_005257650.1:p.Thr772Ala | |
| XM_011525129.1:c.2419A>G | XP_011523431.1:p.Thr807Ala | |
| XM_005257593.5:c.2314A>G | XP_005257650.1:p.Thr772Ala | |
| XM_011525129.2:c.2419A>G | XP_011523431.1:p.Thr807Ala | |
| NM_000342.4:c.2509A>G MANE Select | NP_000333.1:p.Thr837Ala |