Linked Data
ClinVar Variation Id:
243072
ClinVar RCV Id:
RCV000235072
dbSNP Id:
rs751230398
PubMed:
PMID:26257172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71223690A>G , CM000685.2:g.71223690A>G | GRCh38 |
| NC_000023.10:g.70443540A>G , CM000685.1:g.70443540A>G | GRCh37 |
| NC_000023.9:g.70360265A>G | NCBI36 |
| NG_008357.1:g.13479A>G , LRG_245:g.13479A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361726.7:c.-16-2A>G MANE Select | ENSP00000354900.6:n.-16-2A>G | |
| ENST00000374029.2:c.-16-2A>G | ENSP00000363141.1:n.-16-2A>G | |
| ENST00000447581.2:c.-16-2A>G | ENSP00000407223.2:n.-16-2A>G | |
| ENST00000645009.2:c.-16-2A>G | ENSP00000494142.2:n.-16-2A>G | |
| ENST00000646835.1:c.-16-2A>G | ENSP00000494596.1:n.-16-2A>G | |
| ENST00000647424.1:c.-16-2A>G | ENSP00000495960.1:n.-16-2A>G | |
| ENST00000674549.1:c.-16-2A>G | ENSP00000502766.1:n.-16-2A>G | |
| ENST00000674844.1:c.-16-2A>G | ENSP00000502556.1:n.-16-2A>G | |
| ENST00000675209.1:c.-16-2A>G | ENSP00000501813.1:n.-16-2A>G | |
| ENST00000675368.1:c.-16-2A>G | ENSP00000501757.1:n.-16-2A>G | |
| ENST00000675609.1:c.-16-2A>G | ENSP00000501571.1:n.-16-2A>G | |
| ENST00000361726.6:c.-16-2A>G | ENSP00000354900.6:n.-16-2A>G | |
| ENST00000374022.3:c.-16-2A>G | ENSP00000363134.3:n.-16-2A>G | |
| ENST00000374029.1:c.-16-2A>G | ENSP00000363141.1:n.-16-2A>G | |
| ENST00000447581.1:c.-16-2A>G | ENSP00000407223.1:n.-16-2A>G | |
| NM_000166.5:c.-16-2A>G | NP_000157.1:n.-16-2A>G | |
| NM_001097642.2:c.-16-2A>G , LRG_245t1:c.-16-2A>G | NP_001091111.1:n.-16-2A>G | |
| XM_011530907.1:c.-16-2A>G | XP_011529209.1:n.-16-2A>G | |
| XM_011530907.2:c.-16-2A>G | XP_011529209.1:n.-16-2A>G | |
| NM_000166.6:c.-16-2A>G MANE Select | NP_000157.1:n.-16-2A>G | |
| NM_001097642.3:c.-16-2A>G | NP_001091111.1:n.-16-2A>G |