Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60648629C>G , CM000676.2:g.60648629C>G | GRCh38 |
| NC_000014.8:g.61115347C>G , CM000676.1:g.61115347C>G | GRCh37 |
| NC_000014.7:g.60185100C>G | NCBI36 |
| NG_008231.1:g.5809G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.560+1G>C MANE Select | ENSP00000494686.1:n.560+1G>C | |
| ENST00000247182.6:c.560+1G>C | ENSP00000247182.5:n.560+1G>C | |
| ENST00000553535.2:n.249-2052G>C | ||
| ENST00000554986.2:c.42-2052G>C | ENSP00000452700.2:n.42-2052G>C | |
| ENST00000555955.3:n.1198-2052G>C | ||
| NM_005982.3:c.560+1G>C | NP_005973.1:n.560+1G>C | |
| XM_017021602.2:c.501+60G>C | XP_016877091.1:n.501+60G>C | |
| NM_005982.4:c.560+1G>C MANE Select | NP_005973.1:n.560+1G>C |