Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136656419G>C , CM000685.2:g.136656419G>C | GRCh38 |
| NC_000023.10:g.135738578G>C , CM000685.1:g.135738578G>C | GRCh37 |
| NC_000023.9:g.135566244G>C | NCBI36 |
| NG_007280.1:g.13243G>C , LRG_141:g.13243G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000074.3:c.409+1G>C MANE Select | NP_000065.1:n.409+1G>C |
| ENST00000370629.7:c.409+1G>C MANE Select | ENSP00000359663.2:n.409+1G>C |
| NM_000074.2:c.409+1G>C , LRG_141t1:c.409+1G>C | NP_000065.1:n.409+1G>C |
| ENST00000370628.2:c.346+1989G>C | ENSP00000359662.2:n.346+1989G>C |
| ENST00000370629.6:c.409+1G>C | ENSP00000359663.2:n.409+1G>C |
| ENST00000695724.1:c.*27+1G>C | ENSP00000512122.1:n.*27+1G>C |
| ENST00000695725.1:c.157-2620G>C | ENSP00000512123.1:n.157-2620G>C |
| ENST00000695726.1:n.2377+1G>C | |
| ENST00000695729.1:n.3212+1G>C |