Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860510C>A , CM000668.2:g.31860510C>A | GRCh38 |
| NC_000006.11:g.31828287C>A , CM000668.1:g.31828287C>A | GRCh37 |
| NC_000006.10:g.31936266C>A | NCBI36 |
| NG_008201.1:g.7423G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.727G>T MANE Select | NP_000425.1:p.Gly243Ter |
| ENST00000375631.5:c.727G>T MANE Select | ENSP00000364782.4:p.Gly243Ter |
| NM_000434.3:c.727G>T | NP_000425.1:p.Gly243Ter |
| ENST00000375631.4:c.727G>T | ENSP00000364782.4:p.Gly243Ter |
| ENST00000480384.1:n.756G>T | |
| ENST00000491768.5:c.727G>T | ENSP00000433127.1:p.Gly243Ter |
| ENST00000495807.1:n.1861G>T | |
| ENST00000677054.1:n.1970G>T | |
| ENST00000677512.1:n.835G>T | |
| ENST00000678869.1:n.1401G>T |