Linked Data
ClinVar Variation Id:
953990
ClinVar RCV Id:
RCV001226366
dbSNP Id:
rs374276440
ExAC:
2:113890360 C / T
gnomAD v2:
2-113890360-C-T
gnomAD v3:
2-113132783-C-T
gnomAD v4:
2-113132783-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113132783C>T , CM000664.2:g.113132783C>T | GRCh38 |
| NC_000002.11:g.113890360C>T , CM000664.1:g.113890360C>T | GRCh37 |
| NC_000002.10:g.113606831C>T | NCBI36 |
| NG_021240.1:g.19891C>T , LRG_188:g.19891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.344C>T | ENSP00000387210.1:p.Ala115Val | |
| ENST00000696879.1:c.344C>T | ENSP00000512947.1:p.Ala115Val | |
| ENST00000696880.1:c.344C>T | ENSP00000512948.1:p.Ala115Val | |
| ENST00000696881.1:c.344C>T | ENSP00000512949.1:p.Ala115Val | |
| ENST00000696882.1:c.*216C>T | ENSP00000512950.1:n.*216C>T | |
| ENST00000696883.1:n.391C>T | ||
| ENST00000409930.4:c.446C>T MANE Select | ENSP00000387173.3:p.Ala149Val | |
| ENST00000259206.9:c.455C>T | ENSP00000259206.5:p.Ala152Val | |
| ENST00000354115.6:c.392C>T | ENSP00000329072.3:p.Ala131Val | |
| ENST00000361779.7:c.344C>T | ENSP00000354816.3:p.Ala115Val | |
| ENST00000409052.5:c.344C>T | ENSP00000387210.1:p.Ala115Val | |
| ENST00000409930.3:c.446C>T | ENSP00000387173.3:p.Ala149Val | |
| NM_000577.4:c.392C>T | NP_000568.1:p.Ala131Val | |
| NM_173841.2:c.455C>T , LRG_188t1:c.455C>T | NP_776213.1:p.Ala152Val | |
| NM_173842.2:c.446C>T | NP_776214.1:p.Ala149Val | |
| NM_173843.2:c.344C>T | NP_776215.1:p.Ala115Val | |
| XM_005263661.3:c.344C>T | XP_005263718.1:p.Ala115Val | |
| XM_006712497.2:c.344C>T | XP_006712560.1:p.Ala115Val | |
| XM_011511121.1:c.344C>T | XP_011509423.1:p.Ala115Val | |
| NM_001318914.1:c.344C>T | NP_001305843.1:p.Ala115Val | |
| XM_005263661.4:c.344C>T | XP_005263718.1:p.Ala115Val | |
| NM_000577.5:c.392C>T | NP_000568.1:p.Ala131Val | |
| NM_001318914.2:c.344C>T | NP_001305843.1:p.Ala115Val | |
| NM_173842.3:c.446C>T MANE Select | NP_776214.1:p.Ala149Val | |
| NM_173843.3:c.344C>T | NP_776215.1:p.Ala115Val | |
| NM_001379360.1:c.344C>T | NP_001366289.1:p.Ala115Val | |
| NM_173841.3:c.455C>T | NP_776213.1:p.Ala152Val |