Linked Data
ClinVar Variation Id:
39834
ClinVar RCV Id:
RCV000033055
dbSNP Id:
rs397514617
PubMed:
PMID:22499348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036356C>A , CM000673.2:g.68036356C>A | GRCh38 |
| NC_000011.9:g.67803823C>A , CM000673.1:g.67803823C>A | GRCh37 |
| NC_000011.8:g.67560399C>A | NCBI36 |
| NG_007878.1:g.2341C>A , LRG_115:g.2341C>A | |
| NG_017040.1:g.10740C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.476C>A MANE Select | ENSP00000315774.5:p.Ala159Asp | |
| ENST00000313468.9:c.476C>A | ENSP00000315774.5:p.Ala159Asp | |
| ENST00000524810.5:c.408C>A | ||
| ENST00000526339.5:c.476C>A | ENSP00000436287.1:p.Ala159Asp | |
| ENST00000526446.5:c.*531C>A | ENSP00000433645.1:n.*531C>A | |
| ENST00000528492.1:c.38C>A | ENSP00000432848.1:p.Ala13Asp | |
| ENST00000531282.1:n.328C>A | ||
| NM_002496.3:c.476C>A | NP_002487.1:p.Ala159Asp | |
| XM_005274013.1:c.476C>A | XP_005274070.1:p.Ala159Asp | |
| XM_005274014.1:c.476C>A | XP_005274071.1:p.Ala159Asp | |
| XM_005274015.1:c.356C>A | XP_005274072.1:p.Ala119Asp | |
| XM_011545053.1:c.476C>A | XP_011543355.1:p.Ala159Asp | |
| NM_002496.4:c.476C>A MANE Select | NP_002487.1:p.Ala159Asp |