Linked Data
ClinVar Variation Id:
29604
ClinVar RCV Id:
RCV000022444
dbSNP Id:
rs397514453
PubMed:
PMID:21963049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74525404A>C , CM000672.2:g.74525404A>C | GRCh38 |
| NC_000010.10:g.76285162A>C , CM000672.1:g.76285162A>C | GRCh37 |
| NC_000010.9:g.75955168A>C | NCBI36 |
| NG_030484.1:g.379220A>C | |
| NG_030484.2:g.379220A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286621.7:c.704A>C | ENSP00000286621.3:p.Asp235Ala | |
| ENST00000372734.5:c.653A>C | ENSP00000361819.3:p.Asp218Ala | |
| ENST00000539909.6:c.704A>C MANE Select | ENSP00000443965.2:p.Asp235Ala | |
| ENST00000541550.6:c.653A>C | ENSP00000438321.2:p.Asp218Ala | |
| ENST00000672394.1:c.428A>C | ENSP00000500390.1:p.Asp143Ala | |
| ENST00000672429.1:c.556-63878A>C | ENSP00000500292.1:n.556-63878A>C | |
| ENST00000672604.1:c.444A>C | ||
| ENST00000672920.1:c.*449A>C | ENSP00000500141.1:n.*449A>C | |
| ENST00000673027.1:c.599A>C | ENSP00000500201.1:p.Asp200Ala | |
| ENST00000673310.1:c.653A>C | ENSP00000500097.1:p.Asp218Ala | |
| ENST00000673352.1:c.704A>C | ENSP00000500056.1:p.Asp235Ala | |
| ENST00000286621.6:c.704A>C | ENSP00000286621.2:p.Asp235Ala | |
| ENST00000372734.3:c.653A>C | ENSP00000361819.3:p.Asp218Ala | |
| ENST00000467840.1:n.41A>C | ||
| ENST00000539909.5:c.556-63878A>C | ENSP00000443965.1:n.556-63878A>C | |
| ENST00000541550.5:c.599A>C | ENSP00000438321.1:p.Asp200Ala | |
| NM_001123.3:c.653A>C | NP_001114.2:p.Asp218Ala | |
| NM_001202449.1:c.599A>C | NP_001189378.1:p.Asp200Ala | |
| NM_001202450.1:c.556-63878A>C | NP_001189379.1:n.556-63878A>C | |
| NM_006721.3:c.704A>C | NP_006712.2:p.Asp235Ala | |
| NR_120673.1:n.259+2362T>G | ||
| XM_011539297.1:c.620A>C | XP_011537599.1:p.Asp207Ala | |
| XM_017015698.1:c.704A>C | XP_016871187.1:p.Asp235Ala | |
| XM_017015699.1:c.509A>C | XP_016871188.1:p.Asp170Ala | |
| XM_017015700.1:c.704A>C | XP_016871189.1:p.Asp235Ala | |
| XM_017015701.1:c.505-63878A>C | XP_016871190.1:n.505-63878A>C | |
| XM_017015702.1:c.653A>C | XP_016871191.1:p.Asp218Ala | |
| XM_017015703.2:c.428A>C | XP_016871192.1:p.Asp143Ala | |
| XM_017015704.1:c.704A>C | XP_016871193.1:p.Asp235Ala | |
| XM_017015705.1:c.556-63878A>C | XP_016871194.1:n.556-63878A>C | |
| XM_017015706.1:c.653A>C | XP_016871195.1:p.Asp218Ala | |
| NM_001369123.1:c.704A>C | NP_001356052.1:p.Asp235Ala | |
| NM_001369124.1:c.505-63878A>C | NP_001356053.1:n.505-63878A>C | |
| NM_006721.4:c.704A>C MANE Select | NP_006712.2:p.Asp235Ala | |
| NM_001123.4:c.653A>C | NP_001114.2:p.Asp218Ala | |
| NM_001202449.2:c.599A>C | NP_001189378.1:p.Asp200Ala | |
| NM_001202450.2:c.556-63878A>C | NP_001189379.1:n.556-63878A>C |