Linked Data
dbSNP Id:
rs1187336294
gnomAD v3:
17-41727000-C-G
gnomAD v4:
17-41727000-C-G
MyVariant Identifiers:
chr17:g.41727000C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41727000C>G , CM000679.2:g.41727000C>G | GRCh38 |
| NC_000017.10:g.39883252C>G , CM000679.1:g.39883252C>G | GRCh37 |
| NC_000017.9:g.37136778C>G | NCBI36 |
| NG_009090.2:g.64713G>C , LRG_401:g.64713G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347901.9:c.1367+53G>C MANE Select | ENSP00000334002.4:n.1367+53G>C | |
| ENST00000310778.5:c.1523+53G>C | ENSP00000309392.5:n.1523+53G>C | |
| ENST00000341193.9:c.1316+53G>C | ENSP00000343170.5:n.1316+53G>C | |
| ENST00000347901.8:c.1367+53G>C | ENSP00000334002.4:n.1367+53G>C | |
| ENST00000393939.6:c.1292+53G>C | ENSP00000377513.2:n.1292+53G>C | |
| NM_001079870.1:c.1316+53G>C | NP_001073339.1:n.1316+53G>C | |
| NM_001079871.1:c.1292+53G>C | NP_001073340.1:n.1292+53G>C | |
| NM_177977.2:c.1367+53G>C | NP_817084.2:n.1367+53G>C | |
| NM_001367459.1:c.1463+53G>C | NP_001354388.1:n.1463+53G>C | |
| NM_001367460.1:c.1427+53G>C | NP_001354389.1:n.1427+53G>C | |
| NM_001367461.1:c.1292+53G>C | NP_001354390.1:n.1292+53G>C | |
| NM_001367462.1:c.1292+53G>C | NP_001354391.1:n.1292+53G>C | |
| NM_177977.3:c.1367+53G>C MANE Select | NP_817084.2:n.1367+53G>C |