Linked Data
ClinVar Variation Id:
529444
ClinVar RCV Id:
RCV000634887
dbSNP Id:
rs142967670
gnomAD v2:
19-13002779-C-A
gnomAD v3:
19-12891965-C-A
gnomAD v4:
19-12891965-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12891965C>A , CM000681.2:g.12891965C>A | GRCh38 |
| NC_000019.9:g.13002779C>A , CM000681.1:g.13002779C>A | GRCh37 |
| NC_000019.8:g.12863779C>A | NCBI36 |
| NG_009292.1:g.5806C>A | |
| NG_013087.1:g.239G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.262C>A MANE Select | ENSP00000222214.4:p.Arg88Ser | |
| ENST00000222214.9:c.262C>A | ENSP00000222214.4:p.Arg88Ser | |
| ENST00000421816.6:n.303C>A | ||
| ENST00000585420.5:n.627C>A | ||
| ENST00000585760.5:n.298C>A | ||
| ENST00000587072.1:c.262C>A | ENSP00000468584.1:p.Arg88Ser | |
| ENST00000587832.5:n.319C>A | ||
| ENST00000588905.5:c.226C>A | ENSP00000465770.1:p.Arg76Ser | |
| ENST00000589039.5:c.262C>A | ENSP00000465618.1:p.Arg88Ser | |
| ENST00000590445.5:c.*139C>A | ENSP00000468125.1:n.*139C>A | |
| ENST00000590530.5:c.262C>A | ENSP00000468452.1:p.Arg88Ser | |
| ENST00000590627.5:n.627C>A | ||
| ENST00000591043.1:n.298C>A | ||
| ENST00000591470.5:c.262C>A | ENSP00000466845.1:p.Arg88Ser | |
| NM_000159.3:c.262C>A | NP_000150.1:p.Arg88Ser | |
| NM_013976.3:c.262C>A | NP_039663.1:p.Arg88Ser | |
| NR_102316.1:n.370C>A | ||
| NR_102317.1:n.678C>A | ||
| XM_006722721.2:c.262C>A | XP_006722784.1:p.Arg88Ser | |
| XM_011527899.1:c.262C>A | XP_011526201.1:p.Arg88Ser | |
| XM_011527900.1:c.262C>A | XP_011526202.1:p.Arg88Ser | |
| XM_011527899.2:c.262C>A | XP_011526201.1:p.Arg88Ser | |
| XM_011527900.2:c.262C>A | XP_011526202.1:p.Arg88Ser | |
| XM_017026580.1:c.262C>A | XP_016882069.1:p.Arg88Ser | |
| NM_000159.4:c.262C>A MANE Select | NP_000150.1:p.Arg88Ser | |
| NM_013976.4:c.262C>A | NP_039663.1:p.Arg88Ser | |
| NM_013976.5:c.262C>A | NP_039663.1:p.Arg88Ser |