ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157211279G>C , CM000667.2:g.157211279G>C | GRCh38 |
| NC_000005.9:g.156638290G>C , CM000667.1:g.156638290G>C | GRCh37 |
| NC_000005.8:g.156570868G>C | NCBI36 |
| NG_016276.1:g.35384G>C , LRG_189:g.35384G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.244-8G>C | ENSP00000513001.1:n.244-8G>C | |
| ENST00000422843.8:c.244-8G>C MANE Select | ENSP00000398655.4:n.244-8G>C | |
| ENST00000422843.7:c.244-8G>C | ENSP00000398655.3:n.244-8G>C | |
| ENST00000517779.1:c.244-8G>C | ENSP00000431054.1:n.244-8G>C | |
| ENST00000519402.5:n.379-8G>C | ||
| ENST00000520555.5:n.382-8G>C | ||
| ENST00000521769.5:c.-132-8G>C | ENSP00000430327.1:n.-132-8G>C | |
| NM_005546.3:c.244-8G>C , LRG_189t1:c.244-8G>C | NP_005537.3:n.244-8G>C | |
| NM_005546.4:c.244-8G>C MANE Select | NP_005537.3:n.244-8G>C |