Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285350C>G , CM000681.2:g.40285350C>G | GRCh38 |
| NC_000019.9:g.40791257C>G , CM000681.1:g.40791257C>G | GRCh37 |
| NC_000019.8:g.45483097C>G | NCBI36 |
| NG_012038.2:g.5009G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391844.8:c.-300G>C | ENSP00000375719.4:n.-300G>C | |
| ENST00000392038.6:c.-254G>C | ENSP00000375892.2:n.-254G>C | |
| ENST00000424901.5:c.-254G>C | ENSP00000399532.2:n.-254G>C | |
| ENST00000578123.5:c.-85+98G>C | ENSP00000462022.1:n.-85+98G>C | |
| NM_001243027.2:c.-403G>C | NP_001229956.1:n.-403G>C | |
| NM_001243028.2:c.-310G>C | NP_001229957.1:n.-310G>C | |
| NM_001626.5:c.-254G>C | NP_001617.1:n.-254G>C | |
| XM_011526620.1:c.-85+98G>C | XP_011524922.1:n.-85+98G>C |