Linked Data
ClinVar Variation Id:
161520
ClinVar RCV Id:
RCV000149055
dbSNP Id:
rs193921122
COSMIC:
COSM5521476
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6653001G>T , CM000674.2:g.6653001G>T | GRCh38 |
| NC_000012.11:g.6762167G>T , CM000674.1:g.6762167G>T | GRCh37 |
| NC_000012.10:g.6632428G>T | NCBI36 |
| NG_047151.1:g.15149C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341550.9:c.326C>A MANE Select | ENSP00000343396.4:p.Ala109Asp | |
| ENST00000341550.8:c.326C>A | ENSP00000343396.4:p.Ala109Asp | |
| ENST00000396807.8:c.326C>A | ENSP00000380024.4:p.Ala109Asp | |
| ENST00000412586.6:c.326C>A | ENSP00000412705.2:p.Ala109Asp | |
| ENST00000423703.6:c.326C>A | ENSP00000414008.2:p.Ala109Asp | |
| ENST00000437149.6:n.344C>A | ||
| ENST00000444704.5:c.254C>A | ENSP00000397343.2:p.Ala85Asp | |
| ENST00000446105.6:c.326C>A | ENSP00000415903.2:p.Ala109Asp | |
| ENST00000467678.5:c.-188C>A | ENSP00000473635.1:n.-188C>A | |
| ENST00000469749.5:c.*3C>A | ENSP00000433081.1:n.*3C>A | |
| ENST00000472002.5:n.172C>A | ||
| ENST00000479301.5:c.*458C>A | ENSP00000436406.1:n.*458C>A | |
| ENST00000482489.5:c.114C>A | ENSP00000435867.1:n.114C>A | |
| ENST00000484795.5:n.218C>A | ||
| ENST00000486287.5:n.81C>A | ||
| ENST00000488381.5:c.*458C>A | ENSP00000431892.1:n.*458C>A | |
| ENST00000493873.1:c.-191C>A | ENSP00000437198.1:n.-191C>A | |
| ENST00000619641.4:c.*3C>A | ENSP00000480978.1:n.*3C>A | |
| NM_001127582.1:c.326C>A | NP_001121054.1:p.Ala109Asp | |
| NM_001127583.1:c.326C>A | NP_001121055.1:p.Ala109Asp | |
| NM_001127584.1:c.326C>A | NP_001121056.1:p.Ala109Asp | |
| NM_001127585.1:c.254C>A | NP_001121057.1:p.Ala85Asp | |
| NM_001127586.1:c.326C>A | NP_001121058.1:p.Ala109Asp | |
| NM_016162.3:c.326C>A | NP_057246.2:p.Ala109Asp | |
| XM_005253698.2:c.179C>A | XP_005253755.1:p.Ala60Asp | |
| XM_011520964.1:c.254C>A | XP_011519266.1:p.Ala85Asp | |
| XM_011520965.1:c.245C>A | XP_011519267.1:p.Ala82Asp | |
| XR_242982.2:n.344C>A | ||
| XR_242983.2:n.344C>A | ||
| XM_005253698.4:c.179C>A | XP_005253755.1:p.Ala60Asp | |
| XM_011520964.2:c.254C>A | XP_011519266.1:p.Ala85Asp | |
| XM_011520965.3:c.245C>A | XP_011519267.1:p.Ala82Asp | |
| XM_017019392.2:c.179C>A | XP_016874881.1:p.Ala60Asp | |
| XM_017019393.2:c.179C>A | XP_016874882.1:p.Ala60Asp | |
| XR_002957334.1:n.344C>A | ||
| XR_242982.3:n.344C>A | ||
| XR_242983.3:n.344C>A | ||
| NM_016162.4:c.326C>A MANE Select | NP_057246.2:p.Ala109Asp | |
| NM_001127582.2:c.326C>A | NP_001121054.1:p.Ala109Asp | |
| NM_001127583.2:c.326C>A | NP_001121055.1:p.Ala109Asp | |
| NM_001127584.2:c.326C>A | NP_001121056.1:p.Ala109Asp | |
| NM_001127585.2:c.254C>A | NP_001121057.1:p.Ala85Asp | |
| NM_001127586.2:c.326C>A | NP_001121058.1:p.Ala109Asp |