Linked Data
ClinVar Variation Id:
251664
ClinVar RCV Id:
RCV000237155
dbSNP Id:
rs879254791
PubMed:
PMID:15823276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111555T>G , CM000681.2:g.11111555T>G | GRCh38 |
| NC_000019.9:g.11222231T>G , CM000681.1:g.11222231T>G | GRCh37 |
| NC_000019.8:g.11083231T>G | NCBI36 |
| NG_009060.1:g.27175T>G , LRG_274:g.27175T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1360T>G | ENSP00000252444.6:p.Cys454Gly | |
| ENST00000559340.2:c.1102T>G | ENSP00000453696.2:p.Cys368Gly | |
| ENST00000560467.2:c.982T>G | ENSP00000453513.2:p.Cys328Gly | |
| ENST00000558518.6:c.1102T>G MANE Select | ENSP00000454071.1:p.Cys368Gly | |
| ENST00000252444.9:c.1356T>G | ||
| ENST00000455727.6:c.598T>G | ENSP00000397829.2:p.Cys200Gly | |
| ENST00000535915.5:c.979T>G | ENSP00000440520.1:p.Cys327Gly | |
| ENST00000545707.5:c.721T>G | ENSP00000437639.1:p.Cys241Gly | |
| ENST00000557933.5:c.1102T>G | ENSP00000453557.1:p.Cys368Gly | |
| ENST00000558013.5:c.1102T>G | ENSP00000453346.1:p.Cys368Gly | |
| ENST00000558518.5:c.1102T>G | ENSP00000454071.1:p.Cys368Gly | |
| ENST00000560173.1:n.101T>G | ||
| ENST00000560467.1:c.582T>G | ||
| NM_000527.4:c.1102T>G , LRG_274t1:c.1102T>G | NP_000518.1:p.Cys368Gly | |
| NM_001195798.1:c.1102T>G | NP_001182727.1:p.Cys368Gly | |
| NM_001195799.1:c.979T>G | NP_001182728.1:p.Cys327Gly | |
| NM_001195800.1:c.598T>G | NP_001182729.1:p.Cys200Gly | |
| NM_001195803.1:c.721T>G | NP_001182732.1:p.Cys241Gly | |
| XM_011528010.1:c.1102T>G | XP_011526312.1:p.Cys368Gly | |
| XM_011528011.1:c.721T>G | XP_011526313.1:p.Cys241Gly | |
| XR_244074.2:n.1252T>G | ||
| XM_011528010.2:c.1102T>G | XP_011526312.1:p.Cys368Gly | |
| XR_001753685.2:n.1219T>G | ||
| XR_001753686.2:n.1219T>G | ||
| NM_000527.5:c.1102T>G MANE Select | NP_000518.1:p.Cys368Gly | |
| NM_001195798.2:c.1102T>G | NP_001182727.1:p.Cys368Gly | |
| NM_001195799.2:c.979T>G | NP_001182728.1:p.Cys327Gly | |
| NM_001195800.2:c.598T>G | NP_001182729.1:p.Cys200Gly | |
| NM_001195803.2:c.721T>G | NP_001182732.1:p.Cys241Gly |