Linked Data
ClinVar Variation Id:
310388
ClinVar RCV Id:
RCV000405228
dbSNP Id:
rs4290270
ExAC:
12:72416235 A / T
gnomAD v2:
12-72416235-A-T
gnomAD v3:
12-72022455-A-T
gnomAD v4:
12-72022455-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72022455A>T , CM000674.2:g.72022455A>T | GRCh38 |
| NC_000012.11:g.72416235A>T , CM000674.1:g.72416235A>T | GRCh37 |
| NC_000012.10:g.70702502A>T | NCBI36 |
| NG_008279.1:g.88610A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.1125A>T MANE Select | ENSP00000329093.3:p.Ala375= | |
| ENST00000333850.3:c.1125A>T | ENSP00000329093.3:p.Ala375= | |
| NM_173353.3:c.1125A>T | NP_775489.2:p.Ala375= | |
| XM_011537899.1:c.531A>T | XP_011536201.1:p.Ala177= | |
| NM_173353.4:c.1125A>T MANE Select | NP_775489.2:p.Ala375= |