Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123377745G>A , CM000668.2:g.123377745G>A | GRCh38 |
| NC_000006.11:g.123698890G>A , CM000668.1:g.123698890G>A | GRCh37 |
| NC_000006.10:g.123740589G>A | NCBI36 |
| NG_030438.1:g.264349C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1220-3C>T MANE Select | NP_006064.2:n.1220-3C>T |
| ENST00000334268.9:c.1220-3C>T MANE Select | ENSP00000333984.5:n.1220-3C>T |
| NM_001251987.1:c.1223-3C>T | NP_001238916.1:n.1223-3C>T |
| NM_001251987.2:c.1223-3C>T | NP_001238916.1:n.1223-3C>T |
| NM_006073.3:c.1220-3C>T | NP_006064.2:n.1220-3C>T |
| ENST00000334268.8:c.1220-3C>T | ENSP00000333984.5:n.1220-3C>T |
| ENST00000662930.1:c.1223-3C>T | ENSP00000499585.1:n.1223-3C>T |
| XM_011535382.1:c.1217-3C>T | XP_011533684.1:n.1217-3C>T |