Linked Data
ClinVar Variation Id:
252032
ClinVar RCV Id:
RCV000237670
dbSNP Id:
rs879255023
ERepo:
CA10585613/MONDO:0007750/013
PubMed:
PMID:11810272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116945A>C , CM000681.2:g.11116945A>C | GRCh38 |
| NC_000019.9:g.11227621A>C , CM000681.1:g.11227621A>C | GRCh37 |
| NC_000019.8:g.11088621A>C | NCBI36 |
| NG_009060.1:g.32565A>C , LRG_274:g.32565A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2050A>C | ENSP00000252444.6:p.Ile684Leu | |
| ENST00000559340.2:c.1705+733A>C | ENSP00000453696.2:n.1705+733A>C | |
| ENST00000560467.2:c.1672A>C | ENSP00000453513.2:p.Ile558Leu | |
| ENST00000558518.6:c.1792A>C MANE Select | ENSP00000454071.1:p.Ile598Leu | |
| ENST00000252444.9:c.2046A>C | ||
| ENST00000455727.6:c.1288A>C | ENSP00000397829.2:p.Ile430Leu | |
| ENST00000535915.5:c.1669A>C | ENSP00000440520.1:p.Ile557Leu | |
| ENST00000545707.5:c.1411A>C | ENSP00000437639.1:p.Ile471Leu | |
| ENST00000557933.5:c.1792A>C | ENSP00000453557.1:p.Ile598Leu | |
| ENST00000558013.5:c.1792A>C | ENSP00000453346.1:p.Ile598Leu | |
| ENST00000558518.5:c.1792A>C | ENSP00000454071.1:p.Ile598Leu | |
| ENST00000559340.1:c.426+733A>C | ||
| NM_000527.4:c.1792A>C , LRG_274t1:c.1792A>C | NP_000518.1:p.Ile598Leu | |
| NM_001195798.1:c.1792A>C | NP_001182727.1:p.Ile598Leu | |
| NM_001195799.1:c.1669A>C | NP_001182728.1:p.Ile557Leu | |
| NM_001195800.1:c.1288A>C | NP_001182729.1:p.Ile430Leu | |
| NM_001195803.1:c.1411A>C | NP_001182732.1:p.Ile471Leu | |
| XM_011528010.1:c.1792A>C | XP_011526312.1:p.Ile598Leu | |
| XM_011528011.1:c.1411A>C | XP_011526313.1:p.Ile471Leu | |
| XR_244074.2:n.1855+733A>C | ||
| XM_011528010.2:c.1792A>C | XP_011526312.1:p.Ile598Leu | |
| XR_001753685.2:n.1909A>C | ||
| XR_001753686.2:n.1822+733A>C | ||
| NM_000527.5:c.1792A>C MANE Select | NP_000518.1:p.Ile598Leu | |
| NM_001195798.2:c.1792A>C | NP_001182727.1:p.Ile598Leu | |
| NM_001195799.2:c.1669A>C | NP_001182728.1:p.Ile557Leu | |
| NM_001195800.2:c.1288A>C | NP_001182729.1:p.Ile430Leu | |
| NM_001195803.2:c.1411A>C | NP_001182732.1:p.Ile471Leu |