Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89441152G>A , CM000672.2:g.89441152G>A | GRCh38 |
| NC_000010.10:g.91200909G>A , CM000672.1:g.91200909G>A | GRCh37 |
| NC_000010.9:g.91190889G>A | NCBI36 |
| NG_021179.1:g.99405C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371790.5:c.404C>T MANE Select | ENSP00000360855.4:p.Ala135Val | |
| ENST00000371790.4:c.404C>T | ENSP00000360855.4:p.Ala135Val | |
| NM_213606.3:c.404C>T | NP_998771.3:p.Ala135Val | |
| XM_017016237.2:c.404C>T | XP_016871726.1:p.Ala135Val | |
| XM_017016238.1:c.404C>T | XP_016871727.1:p.Ala135Val | |
| XM_017016239.1:c.404C>T | XP_016871728.1:p.Ala135Val | |
| XM_024447994.1:c.404C>T | XP_024303762.1:p.Ala135Val | |
| NM_213606.4:c.404C>T MANE Select | NP_998771.3:p.Ala135Val |