Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860183G>A , CM000668.2:g.31860183G>A | GRCh38 |
| NC_000006.11:g.31827960G>A , CM000668.1:g.31827960G>A | GRCh37 |
| NC_000006.10:g.31935939G>A | NCBI36 |
| NG_008201.1:g.7750C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.880C>T MANE Select | NP_000425.1:p.Arg294Cys |
| ENST00000375631.5:c.880C>T MANE Select | ENSP00000364782.4:p.Arg294Cys |
| NM_000434.3:c.880C>T | NP_000425.1:p.Arg294Cys |
| ENST00000375631.4:c.880C>T | ENSP00000364782.4:p.Arg294Cys |
| ENST00000480384.1:n.1083C>T | |
| ENST00000491768.5:c.799-5C>T | ENSP00000433127.1:n.799-5C>T |
| ENST00000495807.1:n.2188C>T | |
| ENST00000677054.1:n.2123C>T | |
| ENST00000677512.1:n.1162C>T | |
| ENST00000678869.1:n.1473-5C>T |