Linked Data
ClinVar Variation Id:
417748
ClinVar RCV Id:
RCV000477708
dbSNP Id:
rs371848318
ExAC:
1:45807215 G / A
gnomAD v2:
1-45807215-G-A
gnomAD v4:
1-45341543-G-A
PubMed:
PMID:28092684
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45341543G>A , CM000663.2:g.45341543G>A | GRCh38 |
| NC_000001.10:g.45807215G>A , CM000663.1:g.45807215G>A | GRCh37 |
| NC_000001.9:g.45579802G>A | NCBI36 |
| NG_008189.1:g.3928C>T , LRG_220:g.3928C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372090.6:c.307G>A MANE Select | ENSP00000361162.5:p.Ala103Thr | |
| ENST00000671898.1:c.541-7032C>T | ENSP00000499896.1:n.541-7032C>T | |
| ENST00000372090.5:c.307G>A | ENSP00000361162.5:p.Ala103Thr | |
| ENST00000460057.1:n.48+200G>A | ||
| ENST00000471337.5:n.385G>A | ||
| ENST00000477731.5:n.526G>A | ||
| ENST00000495703.5:n.577G>A | ||
| NM_025077.3:c.307G>A | NP_079353.3:p.Ala103Thr | |
| XM_005270412.2:c.325G>A | XP_005270469.1:p.Ala109Thr | |
| XM_005270413.3:c.169G>A | XP_005270470.1:p.Ala57Thr | |
| XM_011540569.1:c.-49+200G>A | XP_011538871.1:n.-49+200G>A | |
| XR_246230.2:n.584G>A | ||
| XR_426587.2:n.404G>A | ||
| XR_946532.1:n.404G>A | ||
| XM_005270412.4:c.325G>A | XP_005270469.1:p.Ala109Thr | |
| XM_005270413.5:c.169G>A | XP_005270470.1:p.Ala57Thr | |
| XM_011540569.3:c.-49+200G>A | XP_011538871.1:n.-49+200G>A | |
| XM_024452837.1:c.256G>A | XP_024308605.1:p.Ala86Thr | |
| XR_001736951.2:n.494G>A | ||
| XR_002959287.1:n.896G>A | ||
| XR_246230.4:n.494G>A | ||
| XR_426587.4:n.404G>A | ||
| XR_946532.3:n.404G>A | ||
| NM_025077.4:c.307G>A MANE Select | NP_079353.3:p.Ala103Thr |