Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23380056G>T , CM000685.2:g.23380056G>T | GRCh38 |
| NC_000023.10:g.23398173G>T , CM000685.1:g.23398173G>T | GRCh37 |
| NC_000023.9:g.23308094G>T | NCBI36 |
| NG_021300.1:g.50189G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379361.5:c.817G>T MANE Select | ENSP00000368666.4:p.Val273Phe | |
| ENST00000379361.4:c.817G>T | ENSP00000368666.4:p.Val273Phe | |
| ENST00000456522.1:c.159-12475G>T | ||
| ENST00000616022.1:c.502G>T | ENSP00000478663.1:p.Val168Phe | |
| NM_173495.2:c.817G>T | NP_775766.2:p.Val273Phe | |
| XM_011545449.1:c.817G>T | XP_011543751.1:p.Val273Phe | |
| XM_011545449.3:c.817G>T | XP_011543751.1:p.Val273Phe | |
| NM_173495.3:c.817G>T MANE Select | NP_775766.2:p.Val273Phe |