Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75931040T>C , CM000668.2:g.75931040T>C | GRCh38 |
| NC_000006.11:g.76640757T>C , CM000668.1:g.76640757T>C | GRCh37 |
| NC_000006.10:g.76697477T>C | NCBI36 |
| NG_041812.1:g.146639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369950.8:c.2156A>G MANE Select | ENSP00000358966.3:p.Gln719Arg | |
| ENST00000369950.7:c.2156A>G | ENSP00000358966.3:p.Gln719Arg | |
| ENST00000369952.3:c.239A>G | ENSP00000358968.3:p.Gln80Arg | |
| ENST00000611179.4:c.1922A>G | ENSP00000481913.1:p.Gln641Arg | |
| NM_001282368.1:c.1922A>G | NP_001269297.1:p.Gln641Arg | |
| NM_001563.3:c.2156A>G | NP_001554.2:p.Gln719Arg | |
| NM_001563.4:c.2156A>G MANE Select | NP_001554.2:p.Gln719Arg | |
| NM_001282368.2:c.1922A>G | NP_001269297.1:p.Gln641Arg |