Linked Data
ClinVar Variation Id:
140750
ClinVar RCV Id:
RCV000128858
dbSNP Id:
rs587777575
PubMed:
PMID:24995871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162281498C>T , CM000664.2:g.162281498C>T | GRCh38 |
| NC_000002.11:g.163138008C>T , CM000664.1:g.163138008C>T | GRCh37 |
| NC_000002.10:g.162846254C>T | NCBI36 |
| NG_011495.1:g.42032G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697291.1:c.*951G>A | ENSP00000513228.1:n.*951G>A | |
| ENST00000648433.1:c.1354G>A | ENSP00000496816.1:p.Ala452Thr | |
| ENST00000649554.1:n.964G>A | ||
| ENST00000649979.2:c.1354G>A MANE Select | ENSP00000497271.1:p.Ala452Thr | |
| ENST00000679938.1:c.1042G>A | ENSP00000505518.1:p.Ala348Thr | |
| ENST00000263642.2:c.1354G>A | ENSP00000263642.2:p.Ala452Thr | |
| NM_022168.3:c.1354G>A | NP_071451.2:p.Ala452Thr | |
| XM_011511628.1:c.637G>A | XP_011509930.1:p.Ala213Thr | |
| XM_011511629.1:c.1354G>A | XP_011509931.1:p.Ala452Thr | |
| NM_022168.4:c.1354G>A MANE Select | NP_071451.2:p.Ala452Thr |