Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123316500G>A , CM000668.2:g.123316500G>A | GRCh38 |
| NC_000006.11:g.123637645G>A , CM000668.1:g.123637645G>A | GRCh37 |
| NC_000006.10:g.123679344G>A | NCBI36 |
| NG_030438.1:g.325594C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1472-5C>T MANE Select | NP_006064.2:n.1472-5C>T |
| ENST00000334268.9:c.1472-5C>T MANE Select | ENSP00000333984.5:n.1472-5C>T |
| NM_006073.3:c.1472-5C>T | NP_006064.2:n.1472-5C>T |
| ENST00000334268.8:c.1472-5C>T | ENSP00000333984.5:n.1472-5C>T |
| XM_011535382.1:c.1418-5C>T | XP_011533684.1:n.1418-5C>T |
| XR_001743829.1:n.1033+7063G>A | |
| XR_942947.1:n.286+7063G>A | |
| XR_942947.2:n.1033+7063G>A |