Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859878T>C , CM000668.2:g.31859878T>C | GRCh38 |
| NC_000006.11:g.31827655T>C , CM000668.1:g.31827655T>C | GRCh37 |
| NC_000006.10:g.31935634T>C | NCBI36 |
| NG_008201.1:g.8055A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.1089A>G MANE Select | NP_000425.1:p.Leu363= |
| ENST00000375631.5:c.1089A>G MANE Select | ENSP00000364782.4:p.Leu363= |
| NM_000434.3:c.1089A>G | NP_000425.1:p.Leu363= |
| ENST00000375631.4:c.1089A>G | ENSP00000364782.4:p.Leu363= |
| ENST00000480384.1:n.1388A>G | |
| ENST00000491768.5:c.*199A>G | ENSP00000433127.1:n.*199A>G |
| ENST00000495807.1:n.2397A>G | |
| ENST00000677054.1:n.2428A>G | |
| ENST00000677512.1:n.1366A>G | |
| ENST00000678869.1:n.1677A>G |