Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98578037A>G , CM000671.2:g.98578037A>G | GRCh38 |
| NC_000009.11:g.101340319A>G , CM000671.1:g.101340319A>G | GRCh37 |
| NC_000009.10:g.100380140A>G | NCBI36 |
| NG_016426.1:g.136161T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259455.4:c.357T>C MANE Select | ENSP00000259455.2:p.Asp119= | |
| ENST00000637410.1:n.135T>C | ||
| ENST00000637717.1:c.-28T>C | ENSP00000490789.1:n.-28T>C | |
| ENST00000259455.3:c.357T>C | ENSP00000259455.2:p.Asp119= | |
| ENST00000634227.1:n.131T>C | ||
| NM_005458.7:c.357T>C | NP_005449.5:p.Asp119= | |
| NM_005458.8:c.357T>C MANE Select | NP_005449.5:p.Asp119= |