Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41926277C>A , CM000684.2:g.41926277C>A | GRCh38 |
| NC_000022.10:g.42322281C>A , CM000684.1:g.42322281C>A | GRCh37 |
| NC_000022.9:g.40652227C>A | NCBI36 |
| NG_007579.1:g.5541G>T , LRG_184:g.5541G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291232.5:c.191G>T MANE Select | ENSP00000291232.3:p.Gly64Val | |
| ENST00000291232.4:c.191G>T | ENSP00000291232.3:p.Gly64Val | |
| NM_052945.3:c.191G>T , LRG_184t1:c.191G>T | NP_443177.1:p.Gly64Val | |
| NM_052945.4:c.191G>T MANE Select | NP_443177.1:p.Gly64Val |