Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6645324C>T , CM000671.2:g.6645324C>T | GRCh38 |
| NC_000009.11:g.6645324C>T , CM000671.1:g.6645324C>T | GRCh37 |
| NC_000009.10:g.6635324C>T | NCBI36 |
| NG_016397.1:g.5369G>A , LRG_643:g.5369G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.176G>A MANE Select | NP_000161.2:p.Arg59Lys |
| ENST00000321612.8:c.176G>A MANE Select | ENSP00000370737.4:p.Arg59Lys |
| NM_000170.2:c.176G>A , LRG_643t1:c.176G>A | NP_000161.2:p.Arg59Lys |
| ENST00000321612.6:c.176G>A | ENSP00000370737.3:p.Arg59Lys |
| XM_024447726.1:c.335C>T | XP_024303494.1:p.Ser112Phe |