Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37733293C>T , CM000684.2:g.37733293C>T | GRCh38 |
| NC_000022.10:g.38129300C>T , CM000684.1:g.38129300C>T | GRCh37 |
| NC_000022.9:g.36459246C>T | NCBI36 |
| NG_012857.1:g.41306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.3948-5C>T MANE Select | ENSP00000496394.1:n.3948-5C>T | |
| ENST00000344404.10:c.*3431-5C>T | ENSP00000340312.6:n.*3431-5C>T | |
| ENST00000406386.7:c.3948-5C>T | ENSP00000384312.3:n.3948-5C>T | |
| NM_001039141.2:c.3948-5C>T | NP_001034230.1:n.3948-5C>T | |
| XM_011530646.1:c.512-2934G>A | XP_011528948.1:n.512-2934G>A | |
| NM_001039141.3:c.3948-5C>T MANE Select | NP_001034230.1:n.3948-5C>T |