Linked Data
ClinVar Variation Id:
1211236
ClinVar RCV Id:
RCV001587714
dbSNP Id:
rs75855114
gnomAD v2:
17-39924021-C-G
gnomAD v3:
17-41767769-C-G
gnomAD v4:
17-41767769-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41767769C>G , CM000679.2:g.41767769C>G | GRCh38 |
| NC_000017.10:g.39924021C>G , CM000679.1:g.39924021C>G | GRCh37 |
| NC_000017.9:g.37177547C>G | NCBI36 |
| NG_009090.2:g.23944G>C , LRG_401:g.23944G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393931.8:c.708-189G>C MANE Select | ENSP00000377508.3:n.708-189G>C | |
| ENST00000310706.9:c.708-189G>C | ENSP00000311113.5:n.708-189G>C | |
| ENST00000393930.5:c.708-189G>C | ENSP00000377507.1:n.708-189G>C | |
| ENST00000393931.7:c.708-189G>C | ENSP00000377508.3:n.708-189G>C | |
| ENST00000420370.5:c.708-189G>C | ENSP00000411449.1:n.708-189G>C | |
| ENST00000437187.5:c.708-189G>C | ENSP00000394146.1:n.708-189G>C | |
| ENST00000449889.5:c.708-189G>C | ENSP00000389886.1:n.708-189G>C | |
| NM_002230.2:c.708-189G>C , LRG_401t2:c.708-189G>C | NP_002221.1:n.708-189G>C | |
| NM_021991.2:c.708-189G>C , LRG_401t1:c.708-189G>C | NP_068831.1:n.708-189G>C | |
| XM_006721873.1:c.708-189G>C | XP_006721936.1:n.708-189G>C | |
| XM_006721874.1:c.708-189G>C | XP_006721937.1:n.708-189G>C | |
| XM_006721875.1:c.708-189G>C | XP_006721938.1:n.708-189G>C | |
| XM_006721878.1:c.708-189G>C | XP_006721941.1:n.708-189G>C | |
| XM_011524753.1:c.708-189G>C | XP_011523055.1:n.708-189G>C | |
| XM_011524754.1:c.708-189G>C | XP_011523056.1:n.708-189G>C | |
| XM_011524755.1:c.708-189G>C | XP_011523057.1:n.708-189G>C | |
| XM_011524756.1:c.708-189G>C | XP_011523058.1:n.708-189G>C | |
| XM_011524757.1:c.708-189G>C | XP_011523059.1:n.708-189G>C | |
| XM_011524758.1:c.708-189G>C | XP_011523060.1:n.708-189G>C | |
| NM_001352773.1:c.708-189G>C | NP_001339702.1:n.708-189G>C | |
| NM_001352774.1:c.708-189G>C | NP_001339703.1:n.708-189G>C | |
| NM_001352775.1:c.708-189G>C | NP_001339704.1:n.708-189G>C | |
| NM_001352776.1:c.708-189G>C | NP_001339705.1:n.708-189G>C | |
| NM_001352777.1:c.708-189G>C | NP_001339706.1:n.708-189G>C | |
| NM_002230.3:c.708-189G>C | NP_002221.1:n.708-189G>C | |
| NM_021991.3:c.708-189G>C | NP_068831.1:n.708-189G>C | |
| XM_006721874.3:c.708-189G>C | XP_006721937.1:n.708-189G>C | |
| XM_011524753.2:c.708-189G>C | XP_011523055.1:n.708-189G>C | |
| XM_017024588.2:c.759-189G>C | XP_016880077.1:n.759-189G>C | |
| XM_017024590.1:c.708-189G>C | XP_016880079.1:n.708-189G>C | |
| NM_002230.4:c.708-189G>C MANE Select | NP_002221.1:n.708-189G>C | |
| NM_001352773.2:c.708-189G>C | NP_001339702.1:n.708-189G>C | |
| NM_001352774.2:c.708-189G>C | NP_001339703.1:n.708-189G>C | |
| NM_001352775.2:c.708-189G>C | NP_001339704.1:n.708-189G>C | |
| NM_001352776.2:c.708-189G>C | NP_001339705.1:n.708-189G>C | |
| NM_001352777.2:c.708-189G>C | NP_001339706.1:n.708-189G>C | |
| NM_021991.4:c.708-189G>C | NP_068831.1:n.708-189G>C |