Linked Data
dbSNP Id:
rs756721128
ExAC:
9:131708160 C / T
gnomAD v2:
9-131708160-C-T
gnomAD v4:
9-128945881-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945881C>T , CM000671.2:g.128945881C>T | GRCh38 |
| NC_000009.11:g.131708160C>T , CM000671.1:g.131708160C>T | GRCh37 |
| NC_000009.10:g.130747981C>T | NCBI36 |
| NG_017009.1:g.6853G>A , LRG_744:g.6853G>A | |
| NG_033111.1:g.3189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1423G>A MANE Select | ENSP00000361667.3:p.Gly475Arg | |
| ENST00000372586.3:c.1423G>A | ENSP00000361667.3:p.Gly475Arg | |
| ENST00000482796.1:c.39-3308C>T | ENSP00000417556.2:n.39-3308C>T | |
| NM_014908.3:c.1423G>A , LRG_744t1:c.1423G>A | NP_055723.1:p.Gly475Arg | |
| NM_014908.4:c.1423G>A MANE Select | NP_055723.1:p.Gly475Arg |