Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116927317C>T , CM000668.2:g.116927317C>T | GRCh38 |
| NC_000006.11:g.117248480C>T , CM000668.1:g.117248480C>T | GRCh37 |
| NC_000006.10:g.117355173C>T | NCBI36 |
| NG_027699.1:g.55105C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173560.4:c.2176C>T MANE Select | NP_775831.2:p.Arg726Ter |
| ENST00000332958.3:c.2176C>T MANE Select | ENSP00000332208.2:p.Arg726Ter |
| NM_173560.3:c.2176C>T | NP_775831.2:p.Arg726Ter |
| ENST00000332958.2:c.2176C>T | ENSP00000332208.2:p.Arg726Ter |
| XM_011535589.1:c.2068C>T | XP_011533891.1:p.Arg690Ter |
| XM_017010477.1:c.1798C>T | XP_016865966.1:p.Arg600Ter |