Linked Data
ClinVar Variation Id:
1021
dbSNP Id:
rs121434510
ExAC:
3:9730718 A / G
gnomAD v2:
3-9730718-A-G
gnomAD v3:
3-9689034-A-G
gnomAD v4:
3-9689034-A-G
PubMed:
PMID:17008356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9689034A>G , CM000665.2:g.9689034A>G | GRCh38 |
| NC_000003.11:g.9730718A>G , CM000665.1:g.9730718A>G | GRCh37 |
| NC_000003.10:g.9705718A>G | NCBI36 |
| NG_017068.1:g.44602A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296003.9:c.1385A>G MANE Select | ENSP00000296003.5:p.Tyr462Cys | |
| ENST00000296003.8:c.1385A>G | ENSP00000296003.4:p.Tyr462Cys | |
| ENST00000351233.9:c.1385A>G | ENSP00000334070.7:p.Tyr462Cys | |
| ENST00000353332.9:c.1385A>G | ENSP00000323462.8:p.Tyr462Cys | |
| ENST00000414996.1:c.*742A>G | ENSP00000392935.1:n.*742A>G | |
| ENST00000420925.5:c.647A>G | ENSP00000401993.1:p.Tyr216Cys | |
| ENST00000447144.5:c.*358A>G | ENSP00000410761.1:n.*358A>G | |
| ENST00000617504.4:c.1385A>G | ENSP00000478236.1:p.Tyr462Cys | |
| NM_001077525.2:c.1385A>G | NP_001070993.1:p.Tyr462Cys | |
| NM_001077526.2:c.1385A>G | NP_001070994.1:p.Tyr462Cys | |
| NM_022485.4:c.1385A>G | NP_071930.2:p.Tyr462Cys | |
| XM_005265400.1:c.1310A>G | XP_005265457.1:p.Tyr437Cys | |
| XM_011534012.1:c.1103A>G | XP_011532314.1:p.Tyr368Cys | |
| XM_011534013.1:c.1022A>G | XP_011532315.1:p.Tyr341Cys | |
| XR_245152.1:n.1509A>G | ||
| XM_005265400.2:c.1310A>G | XP_005265457.1:p.Tyr437Cys | |
| XM_017007034.1:c.1454A>G | XP_016862523.1:p.Tyr485Cys | |
| XM_017007035.1:c.1379A>G | XP_016862524.1:p.Tyr460Cys | |
| XM_017007036.1:c.1454A>G | XP_016862525.1:p.Tyr485Cys | |
| XM_017007037.1:c.1379A>G | XP_016862526.1:p.Tyr460Cys | |
| XM_017007038.2:c.1310A>G | XP_016862527.1:p.Tyr437Cys | |
| XM_017007039.1:c.1454A>G | XP_016862528.1:p.Tyr485Cys | |
| XM_017007040.1:c.1379A>G | XP_016862529.1:p.Tyr460Cys | |
| XM_017007041.1:c.1028A>G | XP_016862530.1:p.Tyr343Cys | |
| XM_017007042.2:c.1310A>G | XP_016862531.1:p.Tyr437Cys | |
| XM_017007043.1:c.1103A>G | XP_016862532.1:p.Tyr368Cys | |
| XM_017007044.2:c.668A>G | XP_016862533.1:p.Tyr223Cys | |
| XM_017007045.2:c.743A>G | XP_016862534.1:p.Tyr248Cys | |
| XM_024453709.1:c.1022A>G | XP_024309477.1:p.Tyr341Cys | |
| XM_024453710.1:c.743A>G | XP_024309478.1:p.Tyr248Cys | |
| XR_001740231.1:n.1705A>G | ||
| XR_001740232.1:n.1631A>G | ||
| XR_001740233.2:n.1421A>G | ||
| XR_245152.2:n.1496A>G | ||
| NM_001077525.3:c.1385A>G MANE Select | NP_001070993.1:p.Tyr462Cys | |
| NM_001077526.3:c.1385A>G | NP_001070994.1:p.Tyr462Cys | |
| NM_022485.5:c.1385A>G | NP_071930.2:p.Tyr462Cys | |
| NM_001400518.1:c.1454A>G | NP_001387447.1:p.Tyr485Cys | |
| NM_001400519.1:c.1382A>G | NP_001387448.1:p.Tyr461Cys | |
| NM_001400520.1:c.1310A>G | NP_001387449.1:p.Tyr437Cys | |
| NM_001400521.1:c.1454A>G | NP_001387450.1:p.Tyr485Cys | |
| NM_001400522.1:c.1382A>G | NP_001387451.1:p.Tyr461Cys | |
| NM_001400523.1:c.1310A>G | NP_001387452.1:p.Tyr437Cys | |
| NM_001400524.1:c.1139A>G | NP_001387453.1:p.Tyr380Cys | |
| NM_001400525.1:c.1103A>G | NP_001387454.1:p.Tyr368Cys | |
| NM_001400526.1:c.1379A>G | NP_001387455.1:p.Tyr460Cys | |
| NM_001400527.1:c.1139A>G | NP_001387456.1:p.Tyr380Cys | |
| NM_001400528.1:c.1310A>G | NP_001387457.1:p.Tyr437Cys | |
| NM_001400529.1:c.1103A>G | NP_001387458.1:p.Tyr368Cys | |
| NM_001400530.1:c.1139A>G | NP_001387459.1:p.Tyr380Cys | |
| NM_001400531.1:c.1136A>G | NP_001387460.1:p.Tyr379Cys | |
| NM_001400532.1:c.1103A>G | NP_001387461.1:p.Tyr368Cys | |
| NM_001400533.1:c.743A>G | NP_001387462.1:p.Tyr248Cys | |
| NM_001400534.1:c.743A>G | NP_001387463.1:p.Tyr248Cys | |
| NM_001400535.1:c.743A>G | NP_001387464.1:p.Tyr248Cys | |
| NM_001400536.1:c.1064A>G | NP_001387465.1:p.Tyr355Cys | |
| NM_001400537.1:c.1028A>G | NP_001387466.1:p.Tyr343Cys | |
| NM_001400538.1:c.668A>G | NP_001387467.1:p.Tyr223Cys | |
| NM_001400539.1:c.743A>G | NP_001387468.1:p.Tyr248Cys | |
| NM_001400540.1:c.743A>G | NP_001387469.1:p.Tyr248Cys | |
| NM_001400541.1:c.743A>G | NP_001387470.1:p.Tyr248Cys | |
| NM_001400542.1:c.743A>G | NP_001387471.1:p.Tyr248Cys | |
| NM_001400543.1:c.743A>G | NP_001387472.1:p.Tyr248Cys | |
| NM_001400544.1:c.524A>G | NP_001387473.1:p.Tyr175Cys | |
| NM_001400545.1:c.743A>G | NP_001387474.1:p.Tyr248Cys | |
| NM_001400546.1:c.743A>G | NP_001387475.1:p.Tyr248Cys | |
| NM_001400547.1:c.524A>G | NP_001387476.1:p.Tyr175Cys | |
| NM_001400548.1:c.524A>G | NP_001387477.1:p.Tyr175Cys | |
| NM_001400549.1:c.668A>G | NP_001387478.1:p.Tyr223Cys | |
| NM_001400550.1:c.524A>G | NP_001387479.1:p.Tyr175Cys | |
| NR_174503.1:n.1389A>G | ||
| NR_174504.1:n.1464A>G | ||
| NR_174505.1:n.1072A>G | ||
| NR_174506.1:n.1252A>G | ||
| NR_174507.1:n.1318A>G | ||
| NR_174508.1:n.1318A>G | ||
| NR_174509.1:n.1218A>G | ||
| NR_174510.1:n.1315A>G | ||
| NR_174511.1:n.1388A>G |