Linked Data
ClinVar Variation Id:
44143
dbSNP Id:
rs114464909
ExAC:
3:121713081 C / T
gnomAD v2:
3-121713081-C-T
gnomAD v3:
3-121994234-C-T
gnomAD v4:
3-121994234-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121994234C>T , CM000665.2:g.121994234C>T | GRCh38 |
| NC_000003.11:g.121713081C>T , CM000665.1:g.121713081C>T | GRCh37 |
| NC_000003.10:g.123195771C>T | NCBI36 |
| NG_031870.1:g.33047G>A | |
| NG_031870.2:g.71321G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344209.10:c.726G>A MANE Select | ENSP00000345667.5:p.Ala242= | |
| ENST00000460554.2:n.729-264G>A | ||
| ENST00000642615.1:c.726G>A | ENSP00000495499.1:p.Ala242= | |
| ENST00000273691.7:c.647-264G>A | ENSP00000273691.3:n.647-264G>A | |
| ENST00000344209.9:c.726G>A | ENSP00000345667.5:p.Ala242= | |
| ENST00000393631.5:c.459G>A | ENSP00000377251.1:p.Ala153= | |
| ENST00000460554.1:n.847G>A | ||
| ENST00000462014.1:c.683-264G>A | ENSP00000419414.1:n.683-264G>A | |
| NM_001199799.1:c.726G>A | NP_001186728.1:p.Ala242= | |
| NM_001199800.1:c.459G>A | NP_001186729.1:p.Ala153= | |
| NM_175924.3:c.647-264G>A | NP_787120.1:n.647-264G>A | |
| XM_005247389.3:c.683-264G>A | XP_005247446.1:n.683-264G>A | |
| XM_011512738.1:c.726G>A | XP_011511040.1:p.Ala242= | |
| XM_011512739.1:c.242-264G>A | XP_011511041.1:n.242-264G>A | |
| XM_005247389.4:c.683-264G>A | XP_005247446.1:n.683-264G>A | |
| XM_011512738.2:c.726G>A | XP_011511040.1:p.Ala242= | |
| XM_011512739.2:c.242-264G>A | XP_011511041.1:n.242-264G>A | |
| NM_001199799.2:c.726G>A MANE Select | NP_001186728.1:p.Ala242= | |
| NM_001199800.2:c.459G>A | NP_001186729.1:p.Ala153= | |
| NM_175924.4:c.647-264G>A | NP_787120.1:n.647-264G>A |