ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157208887A>G , CM000667.2:g.157208887A>G | GRCh38 |
| NC_000005.9:g.156635898A>G , CM000667.1:g.156635898A>G | GRCh37 |
| NC_000005.8:g.156568476A>G | NCBI36 |
| NG_016276.1:g.32992A>G , LRG_189:g.32992A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.139-2A>G | ENSP00000513001.1:n.139-2A>G | |
| ENST00000422843.8:c.139-2A>G MANE Select | ENSP00000398655.4:n.139-2A>G | |
| ENST00000422843.7:c.139-2A>G | ENSP00000398655.3:n.139-2A>G | |
| ENST00000517779.1:c.139-2A>G | ENSP00000431054.1:n.139-2A>G | |
| ENST00000519402.5:n.274-2A>G | ||
| ENST00000520555.5:n.277-2A>G | ||
| ENST00000521769.5:c.-237-2A>G | ENSP00000430327.1:n.-237-2A>G | |
| NM_005546.3:c.139-2A>G , LRG_189t1:c.139-2A>G | NP_005537.3:n.139-2A>G | |
| NM_005546.4:c.139-2A>G MANE Select | NP_005537.3:n.139-2A>G |