Linked Data
ClinVar Variation Id:
17949
ClinVar RCV Id:
RCV000019545
dbSNP Id:
rs104893974
PubMed:
PMID:10811850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137206279C>T , CM000668.2:g.137206279C>T | GRCh38 |
| NC_000006.11:g.137527416C>T , CM000668.1:g.137527416C>T | GRCh37 |
| NC_000006.10:g.137569109C>T | NCBI36 |
| NG_007394.1:g.18152G>A , LRG_66:g.18152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414770.6:c.200G>A | ENSP00000394230.2:p.Cys67Tyr | |
| ENST00000458076.6:c.201-73G>A | ENSP00000389249.2:n.201-73G>A | |
| ENST00000696693.1:c.107G>A | ENSP00000512814.1:p.Cys36Tyr | |
| ENST00000696694.1:c.230G>A | ENSP00000512815.1:p.Cys77Tyr | |
| ENST00000696695.1:c.230G>A | ENSP00000512816.1:p.Cys77Tyr | |
| ENST00000696696.1:c.*129G>A | ENSP00000512817.1:n.*129G>A | |
| ENST00000696697.1:c.176G>A | ENSP00000512818.1:p.Cys59Tyr | |
| ENST00000696698.1:c.230G>A | ENSP00000512819.1:p.Cys77Tyr | |
| ENST00000696699.1:c.146G>A | ENSP00000512820.1:p.Cys49Tyr | |
| ENST00000367739.9:c.230G>A MANE Select | ENSP00000356713.5:p.Cys77Tyr | |
| ENST00000642390.1:c.173G>A | ENSP00000496468.1:p.Cys58Tyr | |
| ENST00000643119.1:c.350G>A | ENSP00000495934.1:n.350G>A | |
| ENST00000644894.1:c.107G>A | ENSP00000495272.1:p.Cys36Tyr | |
| ENST00000645045.1:c.339G>A | ||
| ENST00000645753.1:c.107G>A | ENSP00000495103.1:p.Cys36Tyr | |
| ENST00000646036.1:c.200G>A | ENSP00000496387.1:p.Cys67Tyr | |
| ENST00000646898.1:c.200G>A | ENSP00000494069.1:p.Cys67Tyr | |
| ENST00000647124.1:c.107G>A | ENSP00000496549.1:p.Cys36Tyr | |
| ENST00000367739.8:c.230G>A | ENSP00000356713.4:p.Cys77Tyr | |
| ENST00000414770.5:c.200G>A | ENSP00000394230.1:p.Cys67Tyr | |
| ENST00000458076.5:c.201-73G>A | ENSP00000389249.1:n.201-73G>A | |
| ENST00000543628.5:c.230G>A | ENSP00000443282.2:p.Cys77Tyr | |
| NM_000416.2:c.230G>A , LRG_66t1:c.230G>A | NP_000407.1:p.Cys77Tyr | |
| XM_006715470.2:c.200G>A | XP_006715533.1:p.Cys67Tyr | |
| XM_006715471.2:c.107G>A | XP_006715534.1:p.Cys36Tyr | |
| XM_011535793.1:c.200G>A | XP_011534095.1:p.Cys67Tyr | |
| XM_011535794.1:c.200G>A | XP_011534096.1:p.Cys67Tyr | |
| NM_001363526.1:c.200G>A | NP_001350455.1:p.Cys67Tyr | |
| NM_001363527.1:c.107G>A | NP_001350456.1:p.Cys36Tyr | |
| XM_006715470.3:c.200G>A | XP_006715533.1:p.Cys67Tyr | |
| XM_011535793.2:c.200G>A | XP_011534095.1:p.Cys67Tyr | |
| NM_000416.3:c.230G>A MANE Select | NP_000407.1:p.Cys77Tyr |