Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133642352C>T , CM000671.2:g.133642352C>T | GRCh38 |
| NC_000009.11:g.136507474C>T , CM000671.1:g.136507474C>T | GRCh37 |
| NC_000009.10:g.135497295C>T | NCBI36 |
| NG_008645.1:g.10990C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.632C>T MANE Select | NP_000778.3:p.Ala211Val |
| ENST00000393056.8:c.632C>T MANE Select | ENSP00000376776.2:p.Ala211Val |
| NM_000787.3:c.632C>T | NP_000778.3:p.Ala211Val |
| ENST00000263611.2:c.443C>T | ENSP00000263611.2:p.Ala148Val |
| ENST00000263611.3:c.479C>T | ENSP00000263611.3:p.Ala160Val |
| ENST00000393056.6:c.632C>T | ENSP00000376776.2:p.Ala211Val |