Linked Data
ClinVar Variation Id:
1233820
ClinVar RCV Id:
RCV001619002
dbSNP Id:
rs2241165
gnomAD v2:
2-171678379-C-T
gnomAD v3:
2-170821869-C-T
gnomAD v4:
2-170821869-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170821869C>T , CM000664.2:g.170821869C>T | GRCh38 |
| NC_000002.11:g.171678379C>T , CM000664.1:g.171678379C>T | GRCh37 |
| NC_000002.10:g.171386625C>T | NCBI36 |
| NG_021477.1:g.10180C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358196.8:c.83-218C>T MANE Select | ENSP00000350928.3:n.83-218C>T | |
| ENST00000344257.9:c.83-218C>T | ENSP00000341167.5:n.83-218C>T | |
| ENST00000358196.7:c.83-218C>T | ENSP00000350928.3:n.83-218C>T | |
| ENST00000375272.5:c.83-218C>T | ENSP00000364421.1:n.83-218C>T | |
| ENST00000414527.6:c.83-218C>T | ENSP00000403849.1:n.83-218C>T | |
| ENST00000429023.1:n.64-218C>T | ||
| ENST00000445006.5:c.83-218C>T | ENSP00000394948.1:n.83-218C>T | |
| ENST00000454603.5:c.83-218C>T | ENSP00000402366.1:n.83-218C>T | |
| ENST00000455008.5:c.83-218C>T | ENSP00000405917.1:n.83-218C>T | |
| ENST00000456864.5:c.83-218C>T | ENSP00000394255.1:n.83-218C>T | |
| ENST00000485013.1:n.152C>T | ||
| ENST00000493875.5:c.83-218C>T | ENSP00000434696.1:n.83-218C>T | |
| ENST00000625689.2:c.83-218C>T | ENSP00000486612.1:n.83-218C>T | |
| NM_000817.2:c.83-218C>T | NP_000808.2:n.83-218C>T | |
| NM_013445.3:c.83-218C>T | NP_038473.2:n.83-218C>T | |
| XM_005246444.2:c.83-218C>T | XP_005246501.1:n.83-218C>T | |
| XM_011510922.1:c.83-218C>T | XP_011509224.1:n.83-218C>T | |
| XM_005246444.3:c.83-218C>T | XP_005246501.1:n.83-218C>T | |
| XM_017003756.1:c.83-218C>T | XP_016859245.1:n.83-218C>T | |
| XM_017003757.2:c.83-218C>T | XP_016859246.1:n.83-218C>T | |
| XM_017003758.2:c.83-218C>T | XP_016859247.1:n.83-218C>T | |
| NM_000817.3:c.83-218C>T MANE Select | NP_000808.2:n.83-218C>T | |
| NM_013445.4:c.83-218C>T | NP_038473.2:n.83-218C>T |