Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32200994G>C , CM000668.2:g.32200994G>C | GRCh38 |
| NC_000006.11:g.32168771G>C , CM000668.1:g.32168771G>C | GRCh37 |
| NC_000006.10:g.32276749G>C | NCBI36 |
| NG_028190.1:g.28074C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.4152C>G MANE Select | ENSP00000364163.3:p.Val1384= | |
| ENST00000474612.1:n.2813C>G | ||
| NM_004557.3:c.4152C>G | NP_004548.3:p.Val1384= | |
| NR_134949.1:n.3869C>G | ||
| NR_134950.1:n.3767C>G | ||
| NM_004557.4:c.4152C>G MANE Select | NP_004548.3:p.Val1384= | |
| NR_134949.2:n.3869C>G | ||
| NR_134950.2:n.3767C>G |