Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63146621G>T , CM000674.2:g.63146621G>T | GRCh38 |
| NC_000012.11:g.63540401G>T , CM000674.1:g.63540401G>T | GRCh37 |
| NC_000012.10:g.61826668G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299178.4:c.*738C>A MANE Select | ENSP00000299178.3:n.*738C>A | |
| ENST00000299178.3:c.*738C>A | ENSP00000299178.2:n.*738C>A | |
| ENST00000550940.1:c.538+800C>A | ENSP00000449822.1:n.538+800C>A | |
| NM_000706.4:c.*738C>A | NP_000697.1:n.*738C>A | |
| XM_005269002.3:c.*738C>A | XP_005269059.1:n.*738C>A | |
| NM_000706.5:c.*738C>A MANE Select | NP_000697.1:n.*738C>A |