Linked Data
ClinVar Variation Id:
44784
ClinVar RCV Id:
RCV000037894
RCV000247095
RCV000315530
RCV000353959
RCV000590411
RCV000852641
RCV001080256
RCV003486565
dbSNP Id:
rs61756328
ExAC:
10:121429645 G / A
gnomAD v2:
10-121429645-G-A
gnomAD v3:
10-119670133-G-A
gnomAD v4:
10-119670133-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119670133G>A , CM000672.2:g.119670133G>A | GRCh38 |
| NC_000010.10:g.121429645G>A , CM000672.1:g.121429645G>A | GRCh37 |
| NC_000010.9:g.121419635G>A | NCBI36 |
| NG_016125.1:g.23764G>A , LRG_742:g.23764G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.463G>A MANE Select | ENSP00000358081.4:p.Ala155Thr | |
| ENST00000369085.7:c.463G>A | ENSP00000358081.3:p.Ala155Thr | |
| ENST00000450186.1:c.289G>A | ENSP00000410036.1:p.Ala97Thr | |
| NM_004281.3:c.463G>A , LRG_742t1:c.463G>A | NP_004272.2:p.Ala155Thr | |
| XM_005270287.1:c.463G>A | XP_005270344.1:p.Ala155Thr | |
| XM_005270287.2:c.463G>A | XP_005270344.1:p.Ala155Thr | |
| NM_004281.4:c.463G>A MANE Select | NP_004272.2:p.Ala155Thr |