Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2395402C>T , CM000682.2:g.2395402C>T | GRCh38 |
| NC_000020.10:g.2376048C>T , CM000682.1:g.2376048C>T | GRCh37 |
| NC_000020.9:g.2324048C>T | NCBI36 |
| NG_031917.1:g.19495C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198994.3:c.390C>T MANE Select | NP_945345.2:p.Gly130= |
| ENST00000202625.7:c.390C>T MANE Select | ENSP00000202625.2:p.Gly130= |
| NM_001254734.1:c.390C>T | NP_001241663.1:p.Gly130= |
| NM_001254734.2:c.390C>T | NP_001241663.1:p.Gly130= |
| NM_198994.2:c.390C>T | NP_945345.2:p.Gly130= |
| ENST00000202625.6:c.390C>T | ENSP00000202625.2:p.Gly130= |
| ENST00000381423.1:c.390C>T | ENSP00000370831.1:p.Gly130= |
| ENST00000477505.1:n.174+777C>T |