Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119285053C>T , CM000673.2:g.119285053C>T | GRCh38 |
| NC_000011.9:g.119155763C>T , CM000673.1:g.119155763C>T | GRCh37 |
| NC_000011.8:g.118660973C>T | NCBI36 |
| NG_016808.1:g.83774C>T , LRG_608:g.83774C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005188.4:c.1516C>T MANE Select | NP_005179.2:p.Arg506Ter |
| ENST00000264033.6:c.1516C>T MANE Select | ENSP00000264033.3:p.Arg506Ter |
| NM_005188.3:c.1516C>T , LRG_608t1:c.1516C>T | NP_005179.2:p.Arg506Ter |
| ENST00000264033.5:c.1516C>T | ENSP00000264033.3:p.Arg506Ter |
| ENST00000634586.1:c.1516C>T | ENSP00000489218.1:p.Arg506Ter |
| ENST00000634840.1:c.1432-136C>T | ENSP00000489324.1:n.1432-136C>T |
| ENST00000637974.1:c.1510C>T | ENSP00000490763.1:p.Arg504Ter |
| ENST00000700472.1:c.*968C>T | ENSP00000515005.1:n.*968C>T |