Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143495334C>T , CM000665.2:g.143495334C>T | GRCh38 |
| NC_000003.11:g.143214176C>T , CM000665.1:g.143214176C>T | GRCh37 |
| NC_000003.10:g.144696866C>T | NCBI36 |
| NG_017077.1:g.358198G>A | |
| NG_017077.2:g.358198G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173653.4:c.1203+1G>A MANE Select | NP_775924.1:n.1203+1G>A |
| ENST00000316549.11:c.1203+1G>A MANE Select | ENSP00000320246.6:n.1203+1G>A |
| NM_173653.3:c.1203+1G>A | NP_775924.1:n.1203+1G>A |
| ENST00000316549.10:c.1203+1G>A | ENSP00000320246.6:n.1203+1G>A |
| XM_011512703.1:c.555+1G>A | XP_011511005.1:n.555+1G>A |
| XM_011512703.3:c.555+1G>A | XP_011511005.1:n.555+1G>A |
| XM_017006202.2:c.1203+1G>A | XP_016861691.1:n.1203+1G>A |
| XM_017006203.1:c.852+1G>A | XP_016861692.1:n.852+1G>A |