Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44827883C>A , CM000663.2:g.44827883C>A | GRCh38 |
| NC_000001.10:g.45293555C>A , CM000663.1:g.45293555C>A | GRCh37 |
| NC_000001.9:g.45066142C>A | NCBI36 |
| NG_013369.1:g.20062G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003738.5:c.2018G>T MANE Select | NP_003729.3:p.Arg673Leu |
| ENST00000372192.4:c.2018G>T MANE Select | ENSP00000361266.3:p.Arg673Leu |
| NM_001166292.1:c.2018G>T | NP_001159764.1:p.Arg673Leu |
| NM_001166292.2:c.2018G>T | NP_001159764.1:p.Arg673Leu |
| NM_003738.4:c.2018G>T | NP_003729.3:p.Arg673Leu |
| ENST00000372192.3:c.2018G>T | ENSP00000361266.3:p.Arg673Leu |
| ENST00000447098.6:c.2018G>T | ENSP00000389703.2:p.Arg673Leu |