Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37710606T>C , CM000684.2:g.37710606T>C | GRCh38 |
| NC_000022.10:g.38106613T>C , CM000684.1:g.38106613T>C | GRCh37 |
| NC_000022.9:g.36436559T>C | NCBI36 |
| NG_012857.1:g.18619T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.254+40T>C MANE Select | ENSP00000496394.1:n.254+40T>C | |
| ENST00000344404.10:c.254+40T>C | ENSP00000340312.6:n.254+40T>C | |
| ENST00000406386.7:c.254+40T>C | ENSP00000384312.3:n.254+40T>C | |
| ENST00000455236.4:c.1211+40T>C | ENSP00000477208.1:n.1211+40T>C | |
| ENST00000492485.5:n.390+40T>C | ||
| NM_001039141.2:c.254+40T>C | NP_001034230.1:n.254+40T>C | |
| NM_001039141.3:c.254+40T>C MANE Select | NP_001034230.1:n.254+40T>C |