Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64754336G>A , CM000673.2:g.64754336G>A | GRCh38 |
| NC_000011.9:g.64521808G>A , CM000673.1:g.64521808G>A | GRCh37 |
| NC_000011.8:g.64278384G>A | NCBI36 |
| NG_013018.1:g.11380C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.1009C>T MANE Select | NP_005600.1:p.Gln337Ter |
| ENST00000164139.4:c.1009C>T MANE Select | ENSP00000164139.3:p.Gln337Ter |
| NM_001164716.1:c.745C>T | NP_001158188.1:p.Gln249Ter |
| NM_005609.2:c.1009C>T | NP_005600.1:p.Gln337Ter |
| NM_005609.3:c.1009C>T | NP_005600.1:p.Gln337Ter |
| ENST00000164139.3:c.1009C>T | ENSP00000164139.3:p.Gln337Ter |
| ENST00000377432.7:c.745C>T | ENSP00000366650.3:p.Gln249Ter |
| ENST00000460413.1:n.86C>T |