Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859644A= , CM000668.2:g.31859644A= | GRCh38 |
| NC_000006.11:g.31827421A= , CM000668.1:g.31827421A= | GRCh37 |
| NC_000006.10:g.31935400A= | NCBI36 |
| NG_008201.1:g.8289T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*75T= MANE Select | ENSP00000364782.4:n.*75T= | |
| ENST00000677054.1:n.2662T= | ||
| ENST00000677512.1:n.1600T= | ||
| ENST00000678869.1:n.1911T= | ||
| ENST00000375631.4:c.*75T= | ENSP00000364782.4:n.*75T= | |
| ENST00000480384.1:n.1622T= | ||
| ENST00000491768.5:c.*433T= | ENSP00000433127.1:n.*433T= | |
| ENST00000495807.1:n.2631T= | ||
| NM_000434.3:c.*75T= | NP_000425.1:n.*75T= | |
| NM_000434.4:c.*75T= MANE Select | NP_000425.1:n.*75T= |