Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22081305T>C , CM000671.2:g.22081305T>C | GRCh38 |
| NC_000009.11:g.22081304T>C , CM000671.1:g.22081304T>C | GRCh37 |
| NC_000009.10:g.22071304T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2448+14952T>C | ||
| NR_047532.1:n.1076-11003T>C | ||
| NR_047534.1:n.645-15953T>C | ||
| NR_047535.1:n.780+24918T>C | ||
| NR_047536.1:n.645-31015T>C | ||
| NR_047537.1:n.780+24918T>C | ||
| NR_047538.1:n.644+32077T>C | ||
| NR_047543.1:n.780+24918T>C | ||
| NR_120536.1:n.644+32077T>C |