Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351796G>C , CM000679.2:g.44351796G>C | GRCh38 |
| NC_000017.10:g.42429164G>C , CM000679.1:g.42429164G>C | GRCh37 |
| NC_000017.9:g.39784690G>C | NCBI36 |
| NG_007886.1:g.11674G>C , LRG_661:g.11674G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002087.4:c.1179+1G>C MANE Select | NP_002078.1:n.1179+1G>C |
| ENST00000053867.8:c.1179+1G>C MANE Select | ENSP00000053867.2:n.1179+1G>C |
| NM_002087.3:c.1179+1G>C | NP_002078.1:n.1179+1G>C |
| ENST00000053867.7:c.1179+1G>C | ENSP00000053867.2:n.1179+1G>C |
| ENST00000586443.1:c.620+1G>C | |
| ENST00000589265.5:c.708+1G>C | ENSP00000467616.1:n.708+1G>C |
| ENST00000639447.1:c.1136+44G>C | ENSP00000492014.1:n.1136+44G>C |
| XM_005257253.1:c.1179+1G>C | XP_005257310.1:n.1179+1G>C |
| XM_024450730.1:c.1179+1G>C | XP_024306498.1:n.1179+1G>C |