Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452465G>C , CM000667.2:g.119452465G>C | GRCh38 |
| NC_000005.9:g.118788160G>C , CM000667.1:g.118788160G>C | GRCh37 |
| NC_000005.8:g.118816059G>C | NCBI36 |
| NG_008182.1:g.5013G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683936.1:c.-111G>C | ENSP00000507721.1:n.-111G>C | |
| ENST00000256216.10:c.-111G>C | ENSP00000256216.6:n.-111G>C | |
| NM_000414.3:c.-111G>C | NP_000405.1:n.-111G>C | |
| NM_001199292.1:c.-111G>C | NP_001186221.1:n.-111G>C | |
| NM_001292027.1:c.-248G>C | NP_001278956.1:n.-248G>C |