Linked Data
ClinVar Variation Id:
1523047
ClinVar RCV Id:
RCV002048816
dbSNP Id:
rs150022116
ExAC:
1:57422472 G / T
gnomAD v2:
1-57422472-G-T
gnomAD v3:
1-56956799-G-T
gnomAD v4:
1-56956799-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56956799G>T , CM000663.2:g.56956799G>T | GRCh38 |
| NC_000001.10:g.57422472G>T , CM000663.1:g.57422472G>T | GRCh37 |
| NC_000001.9:g.57195060G>T | NCBI36 |
| NG_007285.1:g.14217C>A , LRG_31:g.14217C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000468990.2:c.*202C>A | ENSP00000512215.1:n.*202C>A | |
| ENST00000494324.2:c.*466C>A | ENSP00000512216.1:n.*466C>A | |
| ENST00000695842.1:c.361C>A | ENSP00000512214.1:p.Arg121= | |
| ENST00000695843.1:c.*202C>A | ENSP00000512217.1:n.*202C>A | |
| ENST00000696144.1:c.361C>A | ENSP00000512436.1:p.Arg121= | |
| ENST00000696164.1:c.361C>A | ENSP00000512454.1:p.Arg121= | |
| ENST00000696165.1:c.*202C>A | ENSP00000512455.1:n.*202C>A | |
| ENST00000696166.1:c.*202C>A | ENSP00000512456.1:n.*202C>A | |
| ENST00000371237.9:c.361C>A MANE Select | ENSP00000360281.4:p.Arg121= | |
| ENST00000371237.8:c.361C>A | ENSP00000360281.4:p.Arg121= | |
| ENST00000535057.5:c.175C>A | ENSP00000440113.1:p.Arg59= | |
| ENST00000543257.5:c.205C>A | ENSP00000442548.1:p.Arg69= | |
| NM_000066.3:c.361C>A | NP_000057.2:p.Arg121= | |
| NM_001278543.1:c.205C>A | NP_001265472.1:p.Arg69= | |
| NM_001278544.1:c.175C>A | NP_001265473.1:p.Arg59= | |
| XM_017002235.1:c.361C>A | XP_016857724.1:p.Arg121= | |
| XR_001737397.1:n.461C>A | ||
| NM_000066.4:c.361C>A MANE Select | NP_000057.3:p.Arg121= | |
| NM_001278543.2:c.205C>A | NP_001265472.2:p.Arg69= | |
| NM_001278544.2:c.175C>A | NP_001265473.2:p.Arg59= |