Linked Data
ClinVar Variation Id:
251447
ClinVar RCV Id:
RCV000238511
dbSNP Id:
rs757808215
ERepo:
CA10585126/MONDO:0007750/013
PubMed:
PMID:15823288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11106640G>T , CM000681.2:g.11106640G>T | GRCh38 |
| NC_000019.9:g.11217316G>T , CM000681.1:g.11217316G>T | GRCh37 |
| NC_000019.8:g.11078316G>T | NCBI36 |
| NG_009060.1:g.22260G>T , LRG_274:g.22260G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1028G>T | ENSP00000252444.6:p.Arg343Leu | |
| ENST00000559340.2:c.770G>T | ENSP00000453696.2:p.Arg257Leu | |
| ENST00000560467.2:c.770G>T | ENSP00000453513.2:p.Arg257Leu | |
| ENST00000558518.6:c.770G>T MANE Select | ENSP00000454071.1:p.Arg257Leu | |
| ENST00000252444.9:c.1024G>T | ||
| ENST00000455727.6:c.314-752G>T | ENSP00000397829.2:n.314-752G>T | |
| ENST00000535915.5:c.647G>T | ENSP00000440520.1:p.Arg216Leu | |
| ENST00000545707.5:c.389G>T | ENSP00000437639.1:p.Arg130Leu | |
| ENST00000557933.5:c.770G>T | ENSP00000453557.1:p.Arg257Leu | |
| ENST00000558013.5:c.770G>T | ENSP00000453346.1:p.Arg257Leu | |
| ENST00000558518.5:c.770G>T | ENSP00000454071.1:p.Arg257Leu | |
| ENST00000558528.1:n.285G>T | ||
| ENST00000560467.1:c.370G>T | ||
| NM_000527.4:c.770G>T , LRG_274t1:c.770G>T | NP_000518.1:p.Arg257Leu | |
| NM_001195798.1:c.770G>T | NP_001182727.1:p.Arg257Leu | |
| NM_001195799.1:c.647G>T | NP_001182728.1:p.Arg216Leu | |
| NM_001195800.1:c.314-752G>T | NP_001182729.1:n.314-752G>T | |
| NM_001195803.1:c.389G>T | NP_001182732.1:p.Arg130Leu | |
| XM_011528010.1:c.770G>T | XP_011526312.1:p.Arg257Leu | |
| XM_011528011.1:c.389G>T | XP_011526313.1:p.Arg130Leu | |
| XR_244074.2:n.920G>T | ||
| XM_011528010.2:c.770G>T | XP_011526312.1:p.Arg257Leu | |
| XR_001753685.2:n.887G>T | ||
| XR_001753686.2:n.887G>T | ||
| NM_000527.5:c.770G>T MANE Select | NP_000518.1:p.Arg257Leu | |
| NM_001195798.2:c.770G>T | NP_001182727.1:p.Arg257Leu | |
| NM_001195799.2:c.647G>T | NP_001182728.1:p.Arg216Leu | |
| NM_001195800.2:c.314-752G>T | NP_001182729.1:n.314-752G>T | |
| NM_001195803.2:c.389G>T | NP_001182732.1:p.Arg130Leu |