Linked Data
ClinVar Variation Id:
5744
ClinVar RCV Id:
RCV000006100
dbSNP Id:
rs137853132
PubMed:
PMID:19631310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128345267G>A , CM000671.2:g.128345267G>A | GRCh38 |
| NC_000009.11:g.131107546G>A , CM000671.1:g.131107546G>A | GRCh37 |
| NC_000009.10:g.130147367G>A | NCBI36 |
| NG_017057.1:g.9708G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300456.5:c.274G>A MANE Select | ENSP00000300456.3:p.Ala92Thr | |
| ENST00000300456.4:c.274G>A | ENSP00000300456.3:p.Ala92Thr | |
| ENST00000372870.5:c.231+1986G>A | ENSP00000361961.1:n.231+1986G>A | |
| NM_005094.3:c.274G>A | NP_005085.2:p.Ala92Thr | |
| XM_017014222.1:c.274G>A | XP_016869711.1:p.Ala92Thr | |
| XM_024447391.1:c.274G>A | XP_024303159.1:p.Ala92Thr | |
| NM_005094.4:c.274G>A MANE Select | NP_005085.2:p.Ala92Thr |