Linked Data
ClinVar Variation Id:
183313
ClinVar RCV Id:
RCV000162134
dbSNP Id:
rs730882222
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6707026A>C , CM000679.2:g.6707026A>C | GRCh38 |
| NC_000017.10:g.6610345A>C , CM000679.1:g.6610345A>C | GRCh37 |
| NC_000017.9:g.6551069A>C | NCBI36 |
| NG_034220.1:g.11396T>G , LRG_1020:g.11396T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433363.7:c.231+2T>G MANE Select | ENSP00000406220.2:n.231+2T>G | |
| ENST00000293800.10:c.231+2T>G | ENSP00000293800.6:n.231+2T>G | |
| ENST00000381074.8:c.103-248T>G | ENSP00000370464.4:n.103-248T>G | |
| ENST00000433363.6:c.231+2T>G | ENSP00000406220.2:n.231+2T>G | |
| ENST00000572094.1:c.227+6T>G | ENSP00000461495.1:n.227+6T>G | |
| ENST00000572352.5:c.120+2T>G | ENSP00000461622.1:n.120+2T>G | |
| ENST00000573648.5:c.231+2T>G | ENSP00000459372.1:n.231+2T>G | |
| ENST00000575230.1:c.231+2T>G | ENSP00000460903.1:n.231+2T>G | |
| ENST00000576323.1:n.261+2T>G | ||
| NM_001143838.2:c.231+2T>G | NP_001137310.1:n.231+2T>G | |
| NM_001284509.1:c.231+2T>G | NP_001271438.1:n.231+2T>G | |
| NM_001284510.1:c.103-248T>G | NP_001271439.1:n.103-248T>G | |
| NM_177550.4:c.231+2T>G , LRG_1020t1:c.231+2T>G | NP_808218.1:n.231+2T>G | |
| XM_006721504.2:c.120+2T>G | XP_006721567.1:n.120+2T>G | |
| XM_011523795.1:c.231+2T>G | XP_011522097.1:n.231+2T>G | |
| XM_011523795.3:c.231+2T>G | XP_011522097.1:n.231+2T>G | |
| NM_001143838.3:c.231+2T>G | NP_001137310.1:n.231+2T>G | |
| NM_001284509.2:c.231+2T>G | NP_001271438.1:n.231+2T>G | |
| NM_001284510.2:c.103-248T>G | NP_001271439.1:n.103-248T>G | |
| NM_177550.5:c.231+2T>G MANE Select | NP_808218.1:n.231+2T>G |