Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123255075G>T , CM000668.2:g.123255075G>T | GRCh38 |
| NC_000006.11:g.123576220G>T , CM000668.1:g.123576220G>T | GRCh37 |
| NC_000006.10:g.123617919G>T | NCBI36 |
| NG_030438.1:g.387019C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1951+6C>A MANE Select | NP_006064.2:n.1951+6C>A |
| ENST00000334268.9:c.1951+6C>A MANE Select | ENSP00000333984.5:n.1951+6C>A |
| NM_006073.3:c.1951+6C>A | NP_006064.2:n.1951+6C>A |
| ENST00000334268.8:c.1951+6C>A | ENSP00000333984.5:n.1951+6C>A |
| XM_011535382.1:c.1870+6C>A | XP_011533684.1:n.1870+6C>A |