Linked Data
ClinVar Variation Id:
2989738
ClinVar RCV Id:
RCV003842369
dbSNP Id:
rs746420476
gnomAD v2:
X-70330730-C-G
gnomAD v3:
X-71110880-C-G
gnomAD v4:
X-71110880-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71110880C>G , CM000685.2:g.71110880C>G | GRCh38 |
| NC_000023.10:g.70330730C>G , CM000685.1:g.70330730C>G | GRCh37 |
| NC_000023.9:g.70247455C>G | NCBI36 |
| NG_009088.1:g.5674G>C , LRG_150:g.5674G>C | |
| NG_021141.1:g.909G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.269+17G>C | ENSP00000421262.2:n.269+17G>C | |
| ENST00000696903.1:n.320+17G>C | ||
| ENST00000374202.7:c.269+17G>C MANE Select | ENSP00000363318.3:n.269+17G>C | |
| ENST00000642473.1:n.633+17G>C | ||
| ENST00000644022.1:n.675+17G>C | ||
| ENST00000644708.1:n.675+17G>C | ||
| ENST00000644911.1:n.675+17G>C | ||
| ENST00000645266.1:c.269+17G>C | ENSP00000493734.1:n.269+17G>C | |
| ENST00000645518.1:c.269+17G>C | ENSP00000493986.1:n.269+17G>C | |
| ENST00000646106.1:c.269+17G>C | ENSP00000496437.1:n.269+17G>C | |
| ENST00000646505.1:c.269+17G>C | ENSP00000496673.1:n.269+17G>C | |
| ENST00000647492.1:c.269+17G>C | ENSP00000495340.1:n.269+17G>C | |
| ENST00000276110.6:n.654+17G>C | ||
| ENST00000374188.7:c.-448+17G>C | ENSP00000363303.3:n.-448+17G>C | |
| ENST00000374202.6:c.269+17G>C | ENSP00000363318.2:n.269+17G>C | |
| ENST00000456850.6:c.24+545G>C | ENSP00000388967.2:n.24+545G>C | |
| ENST00000464642.5:c.137+17G>C | ENSP00000425233.1:n.137+17G>C | |
| ENST00000473378.1:c.206+17G>C | ENSP00000423601.1:n.206+17G>C | |
| ENST00000487883.1:c.233+17G>C | ENSP00000423966.1:n.233+17G>C | |
| ENST00000512747.3:n.336+17G>C | ||
| NM_000206.2:c.269+17G>C , LRG_150t1:c.269+17G>C | NP_000197.1:n.269+17G>C | |
| NM_000206.3:c.269+17G>C MANE Select | NP_000197.1:n.269+17G>C |