Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859879A= , CM000668.2:g.31859879A= | GRCh38 |
| NC_000006.11:g.31827656A= , CM000668.1:g.31827656A= | GRCh37 |
| NC_000006.10:g.31935635A= | NCBI36 |
| NG_008201.1:g.8054T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.1088T= MANE Select | NP_000425.1:p.Leu363= |
| ENST00000375631.5:c.1088T= MANE Select | ENSP00000364782.4:p.Leu363= |
| NM_000434.3:c.1088T= | NP_000425.1:p.Leu363= |
| ENST00000375631.4:c.1088T= | ENSP00000364782.4:p.Leu363= |
| ENST00000480384.1:n.1387T= | |
| ENST00000491768.5:c.*198T= | ENSP00000433127.1:n.*198T= |
| ENST00000495807.1:n.2396T= | |
| ENST00000677054.1:n.2427T= | |
| ENST00000677512.1:n.1365T= | |
| ENST00000678869.1:n.1676T= |