Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63144866G>C , CM000674.2:g.63144866G>C | GRCh38 |
| NC_000012.11:g.63538646G>C , CM000674.1:g.63538646G>C | GRCh37 |
| NC_000012.10:g.61824913G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000706.5:c.*2493C>G MANE Select | NP_000697.1:n.*2493C>G |
| ENST00000299178.4:c.*2493C>G MANE Select | ENSP00000299178.3:n.*2493C>G |
| NM_000706.4:c.*2493C>G | NP_000697.1:n.*2493C>G |
| ENST00000299178.3:c.*2493C>G | ENSP00000299178.2:n.*2493C>G |
| XM_005269002.3:c.*2493C>G | XP_005269059.1:n.*2493C>G |