Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14130957G>C , CM000665.2:g.14130957G>C | GRCh38 |
| NC_000003.11:g.14172457G>C , CM000665.1:g.14172457G>C | GRCh37 |
| NC_000003.10:g.14147458G>C | NCBI36 |
| NG_008975.1:g.11018G>C , LRG_435:g.11018G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*327+1G>C | ENSP00000395617.1:n.*327+1G>C | |
| ENST00000306077.5:c.297+1G>C MANE Select | ENSP00000303992.5:n.297+1G>C | |
| ENST00000306077.4:c.297+1G>C | ENSP00000303992.4:n.297+1G>C | |
| ENST00000432444.1:c.*327+1G>C | ENSP00000395617.1:n.*327+1G>C | |
| NM_024334.2:c.297+1G>C , LRG_435t1:c.297+1G>C | NP_077310.1:n.297+1G>C | |
| XM_011534109.1:c.192+1G>C | XP_011532411.1:n.192+1G>C | |
| XM_017007176.2:c.192+1G>C | XP_016862665.1:n.192+1G>C | |
| NM_024334.3:c.297+1G>C MANE Select | NP_077310.1:n.297+1G>C |