Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21690872C>T , CM000669.2:g.21690872C>T | GRCh38 |
| NC_000007.13:g.21730490C>T , CM000669.1:g.21730490C>T | GRCh37 |
| NC_000007.12:g.21697015C>T | NCBI36 |
| NG_012886.2:g.152658C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.6032C>T MANE Select | NP_001264044.1:p.Ala2011Val |
| ENST00000409508.8:c.6032C>T MANE Select | ENSP00000475939.1:p.Ala2011Val |
| NM_001277115.1:c.6032C>T | NP_001264044.1:p.Ala2011Val |
| ENST00000328843.10:c.6053C>T | ENSP00000330671.7:p.Ala2018Val |
| ENST00000409508.7:c.6032C>T | ENSP00000475939.1:p.Ala2011Val |
| ENST00000620169.4:c.6053C>T | ENSP00000481693.1:p.Ala2018Val |