Linked Data
ClinVar Variation Id:
12685
ClinVar RCV Id:
RCV000013522
dbSNP Id:
rs121918669
PubMed:
PMID:1971148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033456G>T , CM000663.2:g.115033456G>T | GRCh38 |
| NC_000001.10:g.115576077G>T , CM000663.1:g.115576077G>T | GRCh37 |
| NC_000001.9:g.115377600G>T | NCBI36 |
| NG_015891.1:g.8663G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256592.3:c.94G>T MANE Select | ENSP00000256592.1:p.Glu32Ter | |
| ENST00000256592.2:c.94G>T | ENSP00000256592.1:p.Glu32Ter | |
| ENST00000369517.1:c.94G>T | ENSP00000358530.1:p.Glu32Ter | |
| NM_000549.4:c.94G>T | NP_000540.2:p.Glu32Ter | |
| XM_011542065.1:c.94G>T | XP_011540367.1:p.Glu32Ter | |
| XM_011542065.2:c.94G>T | XP_011540367.1:p.Glu32Ter | |
| NM_000549.5:c.94G>T MANE Select | NP_000540.2:p.Glu32Ter |