Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20990526G>C , CM000684.2:g.20990526G>C | GRCh38 |
| NC_000022.10:g.21344815G>C , CM000684.1:g.21344815G>C | GRCh37 |
| NC_000022.9:g.19674815G>C | NCBI36 |
| NG_034193.1:g.13258G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.791+1G>C MANE Select | NP_006758.2:n.791+1G>C |
| ENST00000646124.2:c.791+1G>C MANE Select | ENSP00000496779.1:n.791+1G>C |
| NM_006767.3:c.791+1G>C | NP_006758.2:n.791+1G>C |
| ENST00000215739.12:c.791+1G>C | ENSP00000215739.8:n.791+1G>C |
| ENST00000414985.5:c.*357+1G>C | ENSP00000397247.1:n.*357+1G>C |
| ENST00000479606.5:n.937+1G>C | |
| ENST00000480895.1:n.487+1G>C | |
| ENST00000497716.5:n.175G>C | |
| ENST00000642151.1:c.622+1G>C | |
| ENST00000646506.1:n.370+1G>C | |
| ENST00000700578.1:c.791+1G>C | ENSP00000515073.1:n.791+1G>C |