Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123316507C>T , CM000668.2:g.123316507C>T | GRCh38 |
| NC_000006.11:g.123637652C>T , CM000668.1:g.123637652C>T | GRCh37 |
| NC_000006.10:g.123679351C>T | NCBI36 |
| NG_030438.1:g.325587G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1472-12G>A MANE Select | NP_006064.2:n.1472-12G>A |
| ENST00000334268.9:c.1472-12G>A MANE Select | ENSP00000333984.5:n.1472-12G>A |
| NM_006073.3:c.1472-12G>A | NP_006064.2:n.1472-12G>A |
| ENST00000334268.8:c.1472-12G>A | ENSP00000333984.5:n.1472-12G>A |
| XM_011535382.1:c.1418-12G>A | XP_011533684.1:n.1418-12G>A |
| XR_001743829.1:n.1033+7070C>T | |
| XR_942947.1:n.286+7070C>T | |
| XR_942947.2:n.1033+7070C>T |