Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119000396T>C , CM000670.2:g.119000396T>C | GRCh38 |
| NC_000008.10:g.120012635T>C , CM000670.1:g.120012635T>C | GRCh37 |
| NC_000008.9:g.120081816T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521788.1:n.122+4823T>C | ||
| XM_005250756.2:c.-60+48018T>C | XP_005250813.1:n.-60+48018T>C | |
| NM_001324095.1:c.-323-37040T>C | NP_001311024.1:n.-323-37040T>C | |
| XM_005250756.3:c.-60+48018T>C | XP_005250813.1:n.-60+48018T>C | |
| NM_001324095.2:c.-323-37040T>C | NP_001311024.1:n.-323-37040T>C |