Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75931121G>A , CM000668.2:g.75931121G>A | GRCh38 |
| NC_000006.11:g.76640838G>A , CM000668.1:g.76640838G>A | GRCh37 |
| NC_000006.10:g.76697558G>A | NCBI36 |
| NG_041812.1:g.146558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369950.8:c.2075C>T MANE Select | ENSP00000358966.3:p.Ala692Val | |
| ENST00000369950.7:c.2075C>T | ENSP00000358966.3:p.Ala692Val | |
| ENST00000369952.3:c.158C>T | ENSP00000358968.3:p.Ala53Val | |
| ENST00000611179.4:c.1841C>T | ENSP00000481913.1:p.Ala614Val | |
| NM_001282368.1:c.1841C>T | NP_001269297.1:p.Ala614Val | |
| NM_001563.3:c.2075C>T | NP_001554.2:p.Ala692Val | |
| NM_001563.4:c.2075C>T MANE Select | NP_001554.2:p.Ala692Val | |
| NM_001282368.2:c.1841C>T | NP_001269297.1:p.Ala614Val |