Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129213179C>G , CM000669.2:g.129213179C>G | GRCh38 |
| NC_000007.13:g.128853020C>G , CM000669.1:g.128853020C>G | GRCh37 |
| NC_000007.12:g.128640256C>G | NCBI36 |
| NG_023340.1:g.29308C>G | |
| NG_023340.2:g.29308C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.*728C>G MANE Select | ENSP00000249373.3:n.*728C>G | |
| ENST00000655644.1:c.*2847C>G | ENSP00000499377.1:n.*2847C>G | |
| ENST00000249373.7:c.*728C>G | ENSP00000249373.3:n.*728C>G | |
| NM_005631.4:c.*728C>G | NP_005622.1:n.*728C>G | |
| XM_011516522.1:c.*728C>G | XP_011514824.1:n.*728C>G | |
| XM_024446891.1:c.*728C>G | XP_024302659.1:n.*728C>G | |
| NM_005631.5:c.*728C>G MANE Select | NP_005622.1:n.*728C>G |