Linked Data
ClinVar Variation Id:
1364164
ClinVar RCV Id:
RCV003745362
dbSNP Id:
rs779499509
ExAC:
5:112176216 A / G
gnomAD v2:
5-112176216-A-G
gnomAD v4:
5-112840519-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840519A>G , CM000667.2:g.112840519A>G | GRCh38 |
| NC_000005.9:g.112176216A>G , CM000667.1:g.112176216A>G | GRCh37 |
| NC_000005.8:g.112204115A>G | NCBI36 |
| NG_008481.4:g.152999A>G , LRG_130:g.152999A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4979A>G | ENSP00000473355.2:p.Tyr1660Cys | |
| ENST00000505350.2:c.*4931A>G | ENSP00000481752.1:n.*4931A>G | |
| ENST00000507379.6:c.4871A>G | ENSP00000423224.2:p.Tyr1624Cys | |
| ENST00000509732.6:c.4925A>G | ENSP00000426541.2:p.Tyr1642Cys | |
| ENST00000512211.7:c.4925A>G | ENSP00000423828.3:p.Tyr1642Cys | |
| ENST00000257430.9:c.4925A>G MANE Select | ENSP00000257430.4:p.Tyr1642Cys | |
| ENST00000257430.8:c.4925A>G | ENSP00000257430.4:p.Tyr1642Cys | |
| ENST00000508376.6:c.4925A>G | ENSP00000427089.2:p.Tyr1642Cys | |
| ENST00000508624.5:c.*4247A>G | ENSP00000424265.1:n.*4247A>G | |
| ENST00000520401.1:c.230+11547A>G | ||
| NM_000038.5:c.4925A>G | NP_000029.2:p.Tyr1642Cys | |
| NM_001127510.2:c.4925A>G | NP_001120982.1:p.Tyr1642Cys | |
| NM_001127511.2:c.4871A>G | NP_001120983.2:p.Tyr1624Cys | |
| NM_001354895.1:c.4925A>G | NP_001341824.1:p.Tyr1642Cys | |
| NM_001354896.1:c.4979A>G | NP_001341825.1:p.Tyr1660Cys | |
| NM_001354897.1:c.4955A>G | NP_001341826.1:p.Tyr1652Cys | |
| NM_001354898.1:c.4850A>G | NP_001341827.1:p.Tyr1617Cys | |
| NM_001354899.1:c.4841A>G | NP_001341828.1:p.Tyr1614Cys | |
| NM_001354900.1:c.4802A>G | NP_001341829.1:p.Tyr1601Cys | |
| NM_001354901.1:c.4748A>G | NP_001341830.1:p.Tyr1583Cys | |
| NM_001354902.1:c.4652A>G | NP_001341831.1:p.Tyr1551Cys | |
| NM_001354903.1:c.4622A>G | NP_001341832.1:p.Tyr1541Cys | |
| NM_001354904.1:c.4547A>G | NP_001341833.1:p.Tyr1516Cys | |
| NM_001354905.1:c.4445A>G | NP_001341834.1:p.Tyr1482Cys | |
| NM_001354906.1:c.4076A>G | NP_001341835.1:p.Tyr1359Cys | |
| NM_000038.6:c.4925A>G MANE Select | NP_000029.2:p.Tyr1642Cys | |
| NM_001127510.3:c.4925A>G | NP_001120982.1:p.Tyr1642Cys | |
| NM_001127511.3:c.4871A>G | NP_001120983.2:p.Tyr1624Cys | |
| NM_001354895.2:c.4925A>G | NP_001341824.1:p.Tyr1642Cys | |
| NM_001354896.2:c.4979A>G | NP_001341825.1:p.Tyr1660Cys | |
| NM_001354897.2:c.4955A>G | NP_001341826.1:p.Tyr1652Cys | |
| NM_001354898.2:c.4850A>G | NP_001341827.1:p.Tyr1617Cys | |
| NM_001354899.2:c.4841A>G | NP_001341828.1:p.Tyr1614Cys | |
| NM_001354900.2:c.4802A>G | NP_001341829.1:p.Tyr1601Cys | |
| NM_001354901.2:c.4748A>G | NP_001341830.1:p.Tyr1583Cys | |
| NM_001354902.2:c.4652A>G | NP_001341831.1:p.Tyr1551Cys | |
| NM_001354903.2:c.4622A>G | NP_001341832.1:p.Tyr1541Cys | |
| NM_001354904.2:c.4547A>G | NP_001341833.1:p.Tyr1516Cys | |
| NM_001354905.2:c.4445A>G | NP_001341834.1:p.Tyr1482Cys | |
| NM_001354906.2:c.4076A>G | NP_001341835.1:p.Tyr1359Cys |