Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176139387T>C , CM000664.2:g.176139387T>C | GRCh38 |
| NC_000002.11:g.177004115T>C , CM000664.1:g.177004115T>C | GRCh37 |
| NC_000002.10:g.176712361T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_148241.1:n.779T>C | |
| ENST00000432796.2:c.-85+2388T>C | ENSP00000392615.2:n.-85+2388T>C |
| ENST00000459979.2:n.779T>C | |
| XM_005246510.3:c.-181+2388T>C | XP_005246567.1:n.-181+2388T>C |
| XM_006712477.2:c.-85+2388T>C | XP_006712540.1:n.-85+2388T>C |