Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75931073G>A , CM000668.2:g.75931073G>A | GRCh38 |
| NC_000006.11:g.76640790G>A , CM000668.1:g.76640790G>A | GRCh37 |
| NC_000006.10:g.76697510G>A | NCBI36 |
| NG_041812.1:g.146606C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369950.8:c.2123C>T MANE Select | ENSP00000358966.3:p.Ala708Val | |
| ENST00000369950.7:c.2123C>T | ENSP00000358966.3:p.Ala708Val | |
| ENST00000369952.3:c.206C>T | ENSP00000358968.3:p.Ala69Val | |
| ENST00000611179.4:c.1889C>T | ENSP00000481913.1:p.Ala630Val | |
| NM_001282368.1:c.1889C>T | NP_001269297.1:p.Ala630Val | |
| NM_001563.3:c.2123C>T | NP_001554.2:p.Ala708Val | |
| NM_001563.4:c.2123C>T MANE Select | NP_001554.2:p.Ala708Val | |
| NM_001282368.2:c.1889C>T | NP_001269297.1:p.Ala630Val |