Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.729824C>T , CM000669.2:g.729824C>T | GRCh38 |
| NC_000007.13:g.769461C>T , CM000669.1:g.769461C>T | GRCh37 |
| NC_000007.12:g.735987C>T | NCBI36 |
| NG_033137.1:g.8124C>T | |
| NG_042811.1:g.2853G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.757C>T MANE Select | NP_060272.3:p.Arg253Ter |
| ENST00000297440.11:c.757C>T MANE Select | ENSP00000297440.6:p.Arg253Ter |
| NM_017802.3:c.757C>T | NP_060272.3:p.Arg253Ter |
| NR_075098.1:n.715C>T | |
| NR_075098.2:n.717C>T | |
| ENST00000297440.10:c.757C>T | ENSP00000297440.6:p.Arg253Ter |
| ENST00000437419.5:c.97+2509C>T | |
| ENST00000438961.1:n.226C>T | |
| ENST00000440747.5:c.161C>T | |
| XM_024446813.1:c.757C>T | XP_024302581.1:p.Arg253Ter |
| XM_024446814.1:c.151C>T | XP_024302582.1:p.Arg51Ter |