Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474802G>C , CM000684.2:g.32474802G>C | GRCh38 |
| NC_000022.10:g.32870789G>C , CM000684.1:g.32870789G>C | GRCh37 |
| NC_000022.9:g.31200789G>C | NCBI36 |
| NG_016001.1:g.5083G>C | |
| NG_016001.2:g.5083G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.11:c.-201G>C | ENSP00000266087.7:n.-201G>C | |
| ENST00000420700.5:c.-201G>C | ENSP00000406155.1:n.-201G>C | |
| ENST00000425028.5:c.-201G>C | ENSP00000395823.1:n.-201G>C | |
| NM_012179.3:c.-201G>C | NP_036311.3:n.-201G>C | |
| XM_011530106.1:c.-374G>C | XP_011528408.1:n.-374G>C | |
| XM_024452207.1:c.-391G>C | XP_024307975.1:n.-391G>C |