Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38932427G>T , CM000681.2:g.38932427G>T | GRCh38 |
| NC_000019.9:g.39423067G>T , CM000681.1:g.39423067G>T | GRCh37 |
| NC_000019.8:g.44114907G>T | NCBI36 |
| NG_029222.1:g.6720G>T | |
| NG_031865.1:g.3470C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033362.4:c.144G>T MANE Select | NP_203526.1:p.Lys48Asn |
| ENST00000308018.9:c.144G>T MANE Select | ENSP00000308845.3:p.Lys48Asn |
| NM_021107.1:c.144G>T | NP_066930.1:p.Lys48Asn |
| NM_033362.3:c.144G>T | NP_203526.1:p.Lys48Asn |
| NM_033363.1:c.144G>T | NP_203527.1:p.Lys48Asn |
| ENST00000308018.8:c.144G>T | ENSP00000308845.3:p.Lys48Asn |
| ENST00000402029.3:c.144G>T | ENSP00000384579.2:p.Lys48Asn |
| ENST00000407800.2:c.144G>T | ENSP00000384952.1:p.Lys48Asn |
| ENST00000599996.1:c.476-6127C>A |