Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39582722C>T , CM000677.2:g.39582722C>T | GRCh38 |
| NC_000015.9:g.39874923C>T , CM000677.1:g.39874923C>T | GRCh37 |
| NC_000015.8:g.37662215C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003246.4:c.597C>T MANE Select | NP_003237.2:p.Ile199= |
| ENST00000260356.6:c.597C>T MANE Select | ENSP00000260356.5:p.Ile199= |
| NM_003246.2:c.597C>T | NP_003237.2:p.Ile199= |
| NM_003246.3:c.597C>T | NP_003237.2:p.Ile199= |
| ENST00000260356.5:c.597C>T | ENSP00000260356.5:p.Ile199= |
| XM_011521970.1:c.597C>T | XP_011520272.1:p.Ile199= |
| XM_011521971.1:c.597C>T | XP_011520273.1:p.Ile199= |
| XM_011521971.2:c.597C>T | XP_011520273.1:p.Ile199= |
| XR_931897.1:n.772C>T |