Linked Data
ClinVar Variation Id:
629531
ClinVar RCV Id:
RCV000774240
dbSNP Id:
rs563937625
ExAC:
3:30715582 C / G
gnomAD v2:
3-30715582-C-G
gnomAD v3:
3-30674090-C-G
gnomAD v4:
3-30674090-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674090C>G , CM000665.2:g.30674090C>G | GRCh38 |
| NC_000003.11:g.30715582C>G , CM000665.1:g.30715582C>G | GRCh37 |
| NC_000003.10:g.30690586C>G | NCBI36 |
| NG_007490.1:g.72589C>G , LRG_779:g.72589C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1255-15C>G MANE Select | ENSP00000295754.5:n.1255-15C>G | |
| ENST00000672866.1:n.2851-15C>G | ||
| ENST00000673203.1:n.118C>G | ||
| ENST00000295754.9:c.1255-15C>G | ENSP00000295754.5:n.1255-15C>G | |
| ENST00000359013.4:c.1330-15C>G | ENSP00000351905.4:n.1330-15C>G | |
| NM_001024847.2:c.1330-15C>G , LRG_779t1:c.1330-15C>G | NP_001020018.1:n.1330-15C>G | |
| NM_003242.5:c.1255-15C>G | NP_003233.4:n.1255-15C>G | |
| XM_011534043.1:c.1282-15C>G | XP_011532345.1:n.1282-15C>G | |
| XM_011534044.1:c.1207-15C>G | XP_011532346.1:n.1207-15C>G | |
| XM_011534045.1:c.1150-15C>G | XP_011532347.1:n.1150-15C>G | |
| XM_011534043.2:c.1282-15C>G | XP_011532345.1:n.1282-15C>G | |
| XM_011534045.3:c.1150-15C>G | XP_011532347.1:n.1150-15C>G | |
| XM_017007106.1:c.1150-15C>G | XP_016862595.1:n.1150-15C>G | |
| NM_003242.6:c.1255-15C>G MANE Select | NP_003233.4:n.1255-15C>G |