Linked Data
dbSNP Id:
rs771627979
ExAC:
6:12296204 C / A
gnomAD v2:
6-12296204-C-A
gnomAD v4:
6-12295971-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12295971C>A , CM000668.2:g.12295971C>A | GRCh38 |
| NC_000006.11:g.12296204C>A , CM000668.1:g.12296204C>A | GRCh37 |
| NC_000006.10:g.12404190C>A | NCBI36 |
| NG_016196.1:g.10676C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379375.6:c.543C>A MANE Select | ENSP00000368683.5:p.Thr181= | |
| ENST00000379375.5:c.543C>A | ENSP00000368683.5:p.Thr181= | |
| NM_001168319.1:c.540C>A | NP_001161791.1:p.Thr180= | |
| NM_001955.4:c.543C>A | NP_001946.3:p.Thr181= | |
| XM_011514330.1:c.543C>A | XP_011512632.1:p.Thr181= | |
| XM_011514331.1:c.543C>A | XP_011512633.1:p.Thr181= | |
| XM_011514332.1:c.540C>A | XP_011512634.1:p.Thr180= | |
| XM_011514330.2:c.543C>A | XP_011512632.1:p.Thr181= | |
| XM_011514331.3:c.543C>A | XP_011512633.1:p.Thr181= | |
| XM_011514332.2:c.540C>A | XP_011512634.1:p.Thr180= | |
| XM_017010331.1:c.543C>A | XP_016865820.1:p.Thr181= | |
| NM_001955.5:c.543C>A MANE Select | NP_001946.3:p.Thr181= | |
| NM_001168319.2:c.540C>A | NP_001161791.1:p.Thr180= |