Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612335C>T , CM000679.2:g.41612335C>T | GRCh38 |
| NC_000017.10:g.39768587C>T , CM000679.1:g.39768587C>T | GRCh37 |
| NC_000017.9:g.37022113C>T | NCBI36 |
| NG_008301.1:g.5493G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.354G>A MANE Select | ENSP00000301653.3:p.Lys118= | |
| ENST00000301653.8:c.354G>A | ENSP00000301653.3:p.Lys118= | |
| ENST00000588319.1:n.431G>A | ||
| ENST00000593067.1:c.-312-49G>A | ENSP00000467124.1:n.-312-49G>A | |
| NM_005557.3:c.354G>A | NP_005548.2:p.Lys118= | |
| NM_005557.4:c.354G>A MANE Select | NP_005548.2:p.Lys118= |