Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19570527A>C , CM000686.2:g.19570527A>C | GRCh38 |
| NC_000024.9:g.21732413A>C , CM000686.1:g.21732413A>C | GRCh37 |
| NC_000024.8:g.20191801A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686158.1:n.199+2957A>C | ||
| ENST00000686905.1:n.133+3045A>C | ||
| ENST00000693214.1:n.221+2957A>C | ||
| ENST00000445715.6:n.101+3045A>C | ||
| ENST00000407724.7:n.170+3045A>C | ||
| ENST00000445715.5:n.101+3045A>C | ||
| ENST00000447202.2:n.123+2576A>C | ||
| ENST00000447520.5:n.101+3045A>C | ||
| ENST00000459719.6:n.221+2957A>C | ||
| ENST00000538014.2:n.240+1068A>C | ||
| NR_045128.1:n.125+3045A>C | ||
| NR_045129.1:n.125+3045A>C |