Linked Data
ClinVar Variation Id:
1170461
ClinVar RCV Id:
RCV001522856
dbSNP Id:
rs12085435
ExAC:
1:57415310 G / A
gnomAD v2:
1-57415310-G-A
gnomAD v3:
1-56949637-G-A
gnomAD v4:
1-56949637-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56949637G>A , CM000663.2:g.56949637G>A | GRCh38 |
| NC_000001.10:g.57415310G>A , CM000663.1:g.57415310G>A | GRCh37 |
| NC_000001.9:g.57187898G>A | NCBI36 |
| NG_007285.1:g.21379C>T , LRG_31:g.21379C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000468990.2:c.*623C>T | ENSP00000512215.1:n.*623C>T | |
| ENST00000494324.2:c.*887C>T | ENSP00000512216.1:n.*887C>T | |
| ENST00000695842.1:c.782C>T | ENSP00000512214.1:p.Pro261Leu | |
| ENST00000695843.1:c.*623C>T | ENSP00000512217.1:n.*623C>T | |
| ENST00000696144.1:c.782C>T | ENSP00000512436.1:p.Pro261Leu | |
| ENST00000696164.1:c.782C>T | ENSP00000512454.1:p.Pro261Leu | |
| ENST00000696165.1:c.*623C>T | ENSP00000512455.1:n.*623C>T | |
| ENST00000696166.1:c.*623C>T | ENSP00000512456.1:n.*623C>T | |
| ENST00000371237.9:c.782C>T MANE Select | ENSP00000360281.4:p.Pro261Leu | |
| ENST00000371237.8:c.782C>T | ENSP00000360281.4:p.Pro261Leu | |
| ENST00000535057.5:c.596C>T | ENSP00000440113.1:p.Pro199Leu | |
| ENST00000543257.5:c.626C>T | ENSP00000442548.1:p.Pro209Leu | |
| NM_000066.3:c.782C>T | NP_000057.2:p.Pro261Leu | |
| NM_001278543.1:c.626C>T | NP_001265472.1:p.Pro209Leu | |
| NM_001278544.1:c.596C>T | NP_001265473.1:p.Pro199Leu | |
| XM_017002235.1:c.782C>T | XP_016857724.1:p.Pro261Leu | |
| XR_001737397.1:n.882C>T | ||
| NM_000066.4:c.782C>T MANE Select | NP_000057.3:p.Pro261Leu | |
| NM_001278543.2:c.626C>T | NP_001265472.2:p.Pro209Leu | |
| NM_001278544.2:c.596C>T | NP_001265473.2:p.Pro199Leu |