Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34495319T>C , CM000668.2:g.34495319T>C | GRCh38 |
| NC_000006.11:g.34463096T>C , CM000668.1:g.34463096T>C | GRCh37 |
| NC_000006.10:g.34571074T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020804.5:c.-64+29049T>C MANE Select | NP_065855.1:n.-64+29049T>C |
| ENST00000244458.7:c.-64+29049T>C MANE Select | ENSP00000244458.2:n.-64+29049T>C |
| NM_020804.4:c.-64+29049T>C | NP_065855.1:n.-64+29049T>C |
| ENST00000244458.6:c.-64+29049T>C | ENSP00000244458.2:n.-64+29049T>C |
| ENST00000374043.6:c.-190+29049T>C | ENSP00000363155.1:n.-190+29049T>C |
| ENST00000493633.5:n.75+10175T>C | |
| ENST00000620693.4:c.-64+29049T>C | ENSP00000484060.1:n.-64+29049T>C |
| XM_011514541.1:c.-64+10175T>C | XP_011512843.1:n.-64+10175T>C |