Linked Data
ClinVar Variation Id:
233560
dbSNP Id:
rs764203580
ExAC:
5:112176669 C / G
gnomAD v2:
5-112176669-C-G
gnomAD v3:
5-112840972-C-G
gnomAD v4:
5-112840972-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840972C>G , CM000667.2:g.112840972C>G | GRCh38 |
| NC_000005.9:g.112176669C>G , CM000667.1:g.112176669C>G | GRCh37 |
| NC_000005.8:g.112204568C>G | NCBI36 |
| NG_008481.4:g.153452C>G , LRG_130:g.153452C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5432C>G | ENSP00000473355.2:p.Ala1811Gly | |
| ENST00000505350.2:c.*5384C>G | ENSP00000481752.1:n.*5384C>G | |
| ENST00000507379.6:c.5324C>G | ENSP00000423224.2:p.Ala1775Gly | |
| ENST00000509732.6:c.5378C>G | ENSP00000426541.2:p.Ala1793Gly | |
| ENST00000512211.7:c.5378C>G | ENSP00000423828.3:p.Ala1793Gly | |
| ENST00000257430.9:c.5378C>G MANE Select | ENSP00000257430.4:p.Ala1793Gly | |
| ENST00000257430.8:c.5378C>G | ENSP00000257430.4:p.Ala1793Gly | |
| ENST00000508376.6:c.5378C>G | ENSP00000427089.2:p.Ala1793Gly | |
| ENST00000508624.5:c.*4700C>G | ENSP00000424265.1:n.*4700C>G | |
| ENST00000520401.1:c.230+12000C>G | ||
| NM_000038.5:c.5378C>G | NP_000029.2:p.Ala1793Gly | |
| NM_001127510.2:c.5378C>G | NP_001120982.1:p.Ala1793Gly | |
| NM_001127511.2:c.5324C>G | NP_001120983.2:p.Ala1775Gly | |
| NM_001354895.1:c.5378C>G | NP_001341824.1:p.Ala1793Gly | |
| NM_001354896.1:c.5432C>G | NP_001341825.1:p.Ala1811Gly | |
| NM_001354897.1:c.5408C>G | NP_001341826.1:p.Ala1803Gly | |
| NM_001354898.1:c.5303C>G | NP_001341827.1:p.Ala1768Gly | |
| NM_001354899.1:c.5294C>G | NP_001341828.1:p.Ala1765Gly | |
| NM_001354900.1:c.5255C>G | NP_001341829.1:p.Ala1752Gly | |
| NM_001354901.1:c.5201C>G | NP_001341830.1:p.Ala1734Gly | |
| NM_001354902.1:c.5105C>G | NP_001341831.1:p.Ala1702Gly | |
| NM_001354903.1:c.5075C>G | NP_001341832.1:p.Ala1692Gly | |
| NM_001354904.1:c.5000C>G | NP_001341833.1:p.Ala1667Gly | |
| NM_001354905.1:c.4898C>G | NP_001341834.1:p.Ala1633Gly | |
| NM_001354906.1:c.4529C>G | NP_001341835.1:p.Ala1510Gly | |
| NM_000038.6:c.5378C>G MANE Select | NP_000029.2:p.Ala1793Gly | |
| NM_001127510.3:c.5378C>G | NP_001120982.1:p.Ala1793Gly | |
| NM_001127511.3:c.5324C>G | NP_001120983.2:p.Ala1775Gly | |
| NM_001354895.2:c.5378C>G | NP_001341824.1:p.Ala1793Gly | |
| NM_001354896.2:c.5432C>G | NP_001341825.1:p.Ala1811Gly | |
| NM_001354897.2:c.5408C>G | NP_001341826.1:p.Ala1803Gly | |
| NM_001354898.2:c.5303C>G | NP_001341827.1:p.Ala1768Gly | |
| NM_001354899.2:c.5294C>G | NP_001341828.1:p.Ala1765Gly | |
| NM_001354900.2:c.5255C>G | NP_001341829.1:p.Ala1752Gly | |
| NM_001354901.2:c.5201C>G | NP_001341830.1:p.Ala1734Gly | |
| NM_001354902.2:c.5105C>G | NP_001341831.1:p.Ala1702Gly | |
| NM_001354903.2:c.5075C>G | NP_001341832.1:p.Ala1692Gly | |
| NM_001354904.2:c.5000C>G | NP_001341833.1:p.Ala1667Gly | |
| NM_001354905.2:c.4898C>G | NP_001341834.1:p.Ala1633Gly | |
| NM_001354906.2:c.4529C>G | NP_001341835.1:p.Ala1510Gly |