Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57248536G>C , CM000678.2:g.57248536G>C | GRCh38 |
| NC_000016.9:g.57282448G>C , CM000678.1:g.57282448G>C | GRCh37 |
| NC_000016.8:g.55839949G>C | NCBI36 |
| NG_033905.1:g.8411G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219204.8:c.101-1G>C MANE Select | ENSP00000219204.3:n.101-1G>C | |
| ENST00000219204.7:c.101-1G>C | ENSP00000219204.3:n.101-1G>C | |
| ENST00000562023.5:c.101-1244G>C | ENSP00000457465.1:n.101-1244G>C | |
| ENST00000563234.1:c.93-1G>C | ||
| NM_012106.3:c.101-1G>C | NP_036238.1:n.101-1G>C | |
| XM_011522977.1:c.5-1G>C | XP_011521279.1:n.5-1G>C | |
| NM_012106.4:c.101-1G>C MANE Select | NP_036238.1:n.101-1G>C |