Linked Data
ClinVar Variation Id:
191232
dbSNP Id:
rs749056160
ExAC:
8:126071637 C / T
gnomAD v2:
8-126071637-C-T
gnomAD v3:
8-125059395-C-T
gnomAD v4:
8-125059395-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125059395C>T , CM000670.2:g.125059395C>T | GRCh38 |
| NC_000008.10:g.126071637C>T , CM000670.1:g.126071637C>T | GRCh37 |
| NC_000008.9:g.126140819C>T | NCBI36 |
| NG_012636.1:g.37425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318410.12:c.1669G>A MANE Select | ENSP00000318016.7:p.Ala557Thr | |
| ENST00000318410.11:c.1669G>A | ENSP00000318016.7:p.Ala557Thr | |
| ENST00000517845.5:c.1225G>A | ENSP00000429676.1:p.Ala409Thr | |
| NM_014846.3:c.1669G>A | NP_055661.3:p.Ala557Thr | |
| XM_005251120.2:c.1225G>A | XP_005251177.1:p.Ala409Thr | |
| XM_011517409.1:c.1669G>A | XP_011515711.1:p.Ala557Thr | |
| XM_011517410.1:c.1669G>A | XP_011515712.1:p.Ala557Thr | |
| NM_001330609.1:c.1225G>A | NP_001317538.1:p.Ala409Thr | |
| XM_017014113.2:c.1669G>A | XP_016869602.1:p.Ala557Thr | |
| NM_014846.4:c.1669G>A MANE Select | NP_055661.3:p.Ala557Thr | |
| NM_001330609.2:c.1225G>A | NP_001317538.1:p.Ala409Thr |