Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112269795G>A , CM000674.2:g.112269795G>A | GRCh38 |
| NC_000012.11:g.112707599G>A , CM000674.1:g.112707599G>A | GRCh37 |
| NC_000012.10:g.111191982G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682272.1:c.2230C>T MANE Select | ENSP00000507687.1:p.Arg744Ter | |
| ENST00000311694.7:n.427C>T | ||
| ENST00000377560.9:c.2230C>T | ENSP00000366783.7:p.Arg744Ter | |
| ENST00000550722.5:c.1798C>T | ENSP00000449784.2:p.Arg600Ter | |
| ENST00000550724.2:c.374C>T | ENSP00000448061.2:n.374C>T | |
| NM_001109662.3:c.1798C>T | NP_001103132.3:p.Arg600Ter | |
| NM_001109662.4:c.2230C>T | NP_001103132.4:p.Arg744Ter | |
| NM_001388303.1:c.2230C>T MANE Select | NP_001375232.1:p.Arg744Ter |