Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5488215T>C , CM000674.2:g.5488215T>C | GRCh38 |
| NC_000012.11:g.5597381T>C , CM000674.1:g.5597381T>C | GRCh37 |
| NC_000012.10:g.5467642T>C | NCBI36 |
| NG_050629.1:g.61102T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001102654.2:c.19-5979T>C MANE Select | NP_001096124.1:n.19-5979T>C |
| ENST00000423158.4:c.19-5979T>C MANE Select | ENSP00000397297.2:n.19-5979T>C |
| NM_001102654.1:c.19-5979T>C | NP_001096124.1:n.19-5979T>C |
| ENST00000423158.3:c.19-5979T>C | ENSP00000397297.2:n.19-5979T>C |
| ENST00000535299.5:n.232-18350T>C | |
| ENST00000543548.1:n.209-5979T>C | |
| XM_011520963.1:c.-21-5979T>C | XP_011519265.1:n.-21-5979T>C |
| XM_011520963.2:c.-21-5979T>C | XP_011519265.1:n.-21-5979T>C |