Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860510C>G , CM000668.2:g.31860510C>G | GRCh38 |
| NC_000006.11:g.31828287C>G , CM000668.1:g.31828287C>G | GRCh37 |
| NC_000006.10:g.31936266C>G | NCBI36 |
| NG_008201.1:g.7423G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.727G>C MANE Select | NP_000425.1:p.Gly243Arg |
| ENST00000375631.5:c.727G>C MANE Select | ENSP00000364782.4:p.Gly243Arg |
| NM_000434.3:c.727G>C | NP_000425.1:p.Gly243Arg |
| ENST00000375631.4:c.727G>C | ENSP00000364782.4:p.Gly243Arg |
| ENST00000480384.1:n.756G>C | |
| ENST00000491768.5:c.727G>C | ENSP00000433127.1:p.Gly243Arg |
| ENST00000495807.1:n.1861G>C | |
| ENST00000677054.1:n.1970G>C | |
| ENST00000677512.1:n.835G>C | |
| ENST00000678869.1:n.1401G>C |