Linked Data
ClinVar Variation Id:
397640
dbSNP Id:
rs1043679457
gnomAD v2:
5-60223572-C-G
gnomAD v3:
5-60927745-C-G
gnomAD v4:
5-60927745-C-G
PubMed:
PMID:29422660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60927745C>G , CM000667.2:g.60927745C>G | GRCh38 |
| NC_000005.9:g.60223572C>G , CM000667.1:g.60223572C>G | GRCh37 |
| NC_000005.8:g.60259329C>G | NCBI36 |
| NG_009289.1:g.22334G>C , LRG_466:g.22334G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.173+1119G>C | ENSP00000408344.2:n.173+1119G>C | |
| ENST00000647431.2:c.173+1119G>C | ENSP00000494726.2:n.173+1119G>C | |
| ENST00000647486.2:c.173+1119G>C | ENSP00000494466.2:n.173+1119G>C | |
| ENST00000675042.2:c.-2+1119G>C | ENSP00000502082.2:n.-2+1119G>C | |
| ENST00000675452.2:c.173+1119G>C | ENSP00000506954.1:n.173+1119G>C | |
| ENST00000682041.1:n.1342G>C | ||
| ENST00000682217.1:c.173+1119G>C | ENSP00000507570.1:n.173+1119G>C | |
| ENST00000682246.1:n.229+1119G>C | ||
| ENST00000682375.1:c.-2+1119G>C | ENSP00000507551.1:n.-2+1119G>C | |
| ENST00000682380.1:n.229+1119G>C | ||
| ENST00000682418.1:n.229+1119G>C | ||
| ENST00000682874.1:n.366G>C | ||
| ENST00000683052.1:c.78-9357G>C | ENSP00000507072.1:n.78-9357G>C | |
| ENST00000683199.1:n.195+1119G>C | ||
| ENST00000683460.1:c.173+1119G>C | ENSP00000507820.1:n.173+1119G>C | |
| ENST00000684394.1:n.228+1119G>C | ||
| ENST00000684453.1:n.223+1119G>C | ||
| ENST00000684621.1:n.229+1119G>C | ||
| ENST00000265038.10:c.173+1119G>C | ENSP00000265038.6:n.173+1119G>C | |
| ENST00000497892.6:c.173+1119G>C | ENSP00000501805.1:n.173+1119G>C | |
| ENST00000643034.1:c.173+1119G>C | ENSP00000496080.1:n.173+1119G>C | |
| ENST00000643708.1:c.173+1119G>C | ENSP00000494199.1:n.173+1119G>C | |
| ENST00000647431.1:c.124+1119G>C | ||
| ENST00000647486.1:c.124+1119G>C | ||
| ENST00000675042.1:c.-2+1119G>C | ENSP00000502082.1:n.-2+1119G>C | |
| ENST00000675229.1:c.173+1119G>C | ENSP00000502154.1:n.173+1119G>C | |
| ENST00000675378.1:c.173+1119G>C | ENSP00000502535.1:n.173+1119G>C | |
| ENST00000675920.1:n.329G>C | ||
| ENST00000676185.1:c.173+1119G>C MANE Select | ENSP00000501614.1:n.173+1119G>C | |
| ENST00000265038.9:c.173+1119G>C | ENSP00000265038.5:n.173+1119G>C | |
| ENST00000381118.7:c.173+1119G>C | ENSP00000370510.3:n.173+1119G>C | |
| ENST00000439176.5:c.-2+1119G>C | ENSP00000408344.1:n.-2+1119G>C | |
| ENST00000477893.1:n.224+1119G>C | ||
| ENST00000497892.5:n.216+1119G>C | ||
| NM_000082.3:c.173+1119G>C , LRG_466t1:c.173+1119G>C | NP_000073.1:n.173+1119G>C | |
| NM_001007233.2:c.-220+1119G>C | NP_001007234.1:n.-220+1119G>C | |
| NM_001007234.2:c.173+1119G>C | NP_001007235.1:n.173+1119G>C | |
| NM_001290285.1:c.-205+1119G>C | NP_001277214.1:n.-205+1119G>C | |
| NM_001007234.3:c.173+1119G>C | NP_001007235.1:n.173+1119G>C | |
| NM_000082.4:c.173+1119G>C MANE Select | NP_000073.1:n.173+1119G>C | |
| NM_001007233.3:c.-220+1119G>C | NP_001007234.1:n.-220+1119G>C | |
| NM_001290285.2:c.-205+1119G>C | NP_001277214.1:n.-205+1119G>C |