Linked Data
ClinVar Variation Id:
201243
dbSNP Id:
rs765369749
ExAC:
1:237754142 A / G
gnomAD v2:
1-237754142-A-G
gnomAD v3:
1-237590842-A-G
gnomAD v4:
1-237590842-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237590842A>G , CM000663.2:g.237590842A>G | GRCh38 |
| NC_000001.10:g.237754142A>G , CM000663.1:g.237754142A>G | GRCh37 |
| NC_000001.9:g.235820765A>G | NCBI36 |
| NG_008799.2:g.553441A>G | |
| NG_008799.3:g.553659A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.4010A>G | ENSP00000499659.2:p.Tyr1337Cys | |
| ENST00000659194.3:c.4010A>G | ENSP00000499653.3:p.Tyr1337Cys | |
| ENST00000660292.2:c.4010A>G | ENSP00000499787.2:p.Tyr1337Cys | |
| ENST00000366574.7:c.4010A>G MANE Select | ENSP00000355533.2:p.Tyr1337Cys | |
| ENST00000360064.7:c.3962A>G | ENSP00000353174.7:p.Tyr1321Cys | |
| ENST00000366574.6:c.4010A>G | ENSP00000355533.2:p.Tyr1337Cys | |
| NM_001035.2:c.4010A>G | NP_001026.2:p.Tyr1337Cys | |
| XM_006711802.2:c.4010A>G | XP_006711865.1:p.Tyr1337Cys | |
| XM_006711803.2:c.4007A>G | XP_006711866.1:p.Tyr1336Cys | |
| XM_006711804.2:c.4010A>G | XP_006711867.1:p.Tyr1337Cys | |
| XM_006711805.2:c.4010A>G | XP_006711868.1:p.Tyr1337Cys | |
| XM_006711806.2:c.4010A>G | XP_006711869.1:p.Tyr1337Cys | |
| XM_006711807.2:c.4010A>G | XP_006711870.1:p.Tyr1337Cys | |
| XM_006711808.2:c.4010A>G | XP_006711871.1:p.Tyr1337Cys | |
| XM_006711809.2:c.4010A>G | XP_006711872.1:p.Tyr1337Cys | |
| XM_006711810.2:c.4007A>G | XP_006711873.1:p.Tyr1336Cys | |
| XR_949152.1:n.4291A>G | ||
| XM_006711802.3:c.4010A>G | XP_006711865.1:p.Tyr1337Cys | |
| XM_006711803.3:c.4007A>G | XP_006711866.1:p.Tyr1336Cys | |
| XM_006711804.3:c.4010A>G | XP_006711867.1:p.Tyr1337Cys | |
| XM_006711805.3:c.4010A>G | XP_006711868.1:p.Tyr1337Cys | |
| XM_006711806.3:c.4010A>G | XP_006711869.1:p.Tyr1337Cys | |
| XM_006711807.3:c.4010A>G | XP_006711870.1:p.Tyr1337Cys | |
| XM_006711808.3:c.4010A>G | XP_006711871.1:p.Tyr1337Cys | |
| XM_006711810.3:c.4007A>G | XP_006711873.1:p.Tyr1336Cys | |
| XM_017002028.1:c.3989A>G | XP_016857517.1:p.Tyr1330Cys | |
| XR_002957299.1:n.4324A>G | ||
| XR_949152.2:n.4324A>G | ||
| NM_001035.3:c.4010A>G MANE Select | NP_001026.2:p.Tyr1337Cys |