Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919641G>A , CM000679.2:g.74919641G>A | GRCh38 |
| NC_000017.10:g.72915736G>A , CM000679.1:g.72915736G>A | GRCh37 |
| NC_000017.9:g.70427331G>A | NCBI36 |
| NG_007882.1:g.8616C>T | |
| NG_033062.1:g.367G>A | |
| NG_007882.2:g.8623C>T | |
| NG_033062.2:g.367G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1195C>T MANE Select | ENSP00000480279.1:p.Leu399= | |
| ENST00000579243.1:c.*794C>T | ENSP00000462568.1:n.*794C>T | |
| ENST00000614341.4:c.1195C>T | ENSP00000480279.1:p.Leu399= | |
| NM_001282489.2:c.886C>T | NP_001269418.1:p.Leu296= | |
| NM_173477.4:c.1195C>T | NP_775748.2:p.Leu399= | |
| XM_011524296.1:c.886C>T | XP_011522598.1:p.Leu296= | |
| XM_011524296.2:c.886C>T | XP_011522598.1:p.Leu296= | |
| NM_173477.5:c.1195C>T MANE Select | NP_775748.2:p.Leu399= | |
| NM_001282489.3:c.886C>T | NP_001269418.1:p.Leu296= |