Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144058806C>A , CM000670.2:g.144058806C>A | GRCh38 |
| NC_000008.10:g.145113709C>A , CM000670.1:g.145113709C>A | GRCh37 |
| NC_000008.9:g.145185697C>A | NCBI36 |
| NG_032671.1:g.6876G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017570.5:c.554G>T MANE Select | NP_060040.1:p.Arg185Leu |
| ENST00000618853.5:c.554G>T MANE Select | ENSP00000480476.1:p.Arg185Leu |
| NM_017570.4:c.554G>T | NP_060040.1:p.Arg185Leu |
| ENST00000618853.4:c.554G>T | ENSP00000480476.1:p.Arg185Leu |
| XM_011516960.1:c.842G>T | XP_011515262.1:p.Arg281Leu |
| XM_011516961.1:c.842G>T | XP_011515263.1:p.Arg281Leu |
| XR_001745509.1:n.934G>T |