Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860175A>T , CM000668.2:g.31860175A>T | GRCh38 |
| NC_000006.11:g.31827952A>T , CM000668.1:g.31827952A>T | GRCh37 |
| NC_000006.10:g.31935931A>T | NCBI36 |
| NG_008201.1:g.7758T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.888T>A MANE Select | ENSP00000364782.4:p.Tyr296Ter | |
| ENST00000677054.1:n.2131T>A | ||
| ENST00000677512.1:n.1170T>A | ||
| ENST00000678869.1:n.1476T>A | ||
| ENST00000375631.4:c.888T>A | ENSP00000364782.4:p.Tyr296Ter | |
| ENST00000480384.1:n.1091T>A | ||
| ENST00000491768.5:c.802T>A | ENSP00000433127.1:p.Ter268Arg | |
| ENST00000495807.1:n.2196T>A | ||
| NM_000434.3:c.888T>A | NP_000425.1:p.Tyr296Ter | |
| NM_000434.4:c.888T>A MANE Select | NP_000425.1:p.Tyr296Ter |