Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529166C>T , CM000681.2:g.7529166C>T | GRCh38 |
| NC_000019.9:g.7594052C>T , CM000681.1:g.7594052C>T | GRCh37 |
| NC_000019.8:g.7500052C>T | NCBI36 |
| NG_013374.1:g.15C>T | |
| NG_015806.1:g.11557C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.1200C>T MANE Select | NP_065394.1:p.Gly400= |
| ENST00000264079.11:c.1200C>T MANE Select | ENSP00000264079.5:p.Gly400= |
| NM_020533.2:c.1200C>T | NP_065394.1:p.Gly400= |
| ENST00000264079.10:c.1200C>T | ENSP00000264079.5:p.Gly400= |
| ENST00000394321.9:n.1515C>T | |
| ENST00000594692.1:n.196C>T | |
| ENST00000595860.5:n.383C>T | |
| ENST00000599334.1:c.77C>T |