Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151739696G>T , CM000685.2:g.151739696G>T | GRCh38 |
| NC_000023.10:g.150908168G>T , CM000685.1:g.150908168G>T | GRCh37 |
| NC_000023.9:g.150658824G>T | NCBI36 |
| NG_016352.1:g.9951G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329903.5:c.338G>T MANE Select | ENSP00000328478.4:p.Gly113Val | |
| ENST00000329903.4:c.338G>T | ENSP00000328478.4:p.Gly113Val | |
| NM_005140.1:c.338G>T | NP_005131.1:p.Gly113Val | |
| NM_005140.3:c.338G>T MANE Select | NP_005131.1:p.Gly113Val |