Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404575G>T , CM000669.2:g.94404575G>T | GRCh38 |
| NC_000007.13:g.94033887G>T , CM000669.1:g.94033887G>T | GRCh37 |
| NC_000007.12:g.93871823G>T | NCBI36 |
| NG_007405.1:g.15015G>T , LRG_2:g.15015G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.299G>T MANE Select | NP_000080.2:p.Gly100Val |
| ENST00000297268.11:c.299G>T MANE Select | ENSP00000297268.6:p.Gly100Val |
| NM_000089.3:c.299G>T , LRG_2t1:c.299G>T | NP_000080.2:p.Gly100Val |
| ENST00000297268.10:c.299G>T | ENSP00000297268.6:p.Gly100Val |
| ENST00000620463.1:c.293G>T | ENSP00000477719.1:p.Gly98Val |