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