Linked Data
ClinVar Variation Id:
252219
dbSNP Id:
rs201573863
ExAC:
19:11231154 C / T
gnomAD v2:
19-11231154-C-T
gnomAD v3:
19-11120478-C-T
gnomAD v4:
19-11120478-C-T
PubMed:
PMID:7489239
PMID:10882754
PMID:11810272
PMID:11851376
PMID:19318025
PMID:21310417
PMID:22698793
PMID:23375686
PMID:25461735
PMID:26892515
PMID:27765764
ERepo:
CA038525/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120478C>T , CM000681.2:g.11120478C>T | GRCh38 |
| NC_000019.9:g.11231154C>T , CM000681.1:g.11231154C>T | GRCh37 |
| NC_000019.8:g.11092154C>T | NCBI36 |
| NG_009060.1:g.36098C>T , LRG_274:g.36098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2354C>T | ENSP00000252444.6:p.Pro785Leu | |
| ENST00000559340.2:c.*165C>T | ENSP00000453696.2:n.*165C>T | |
| ENST00000560467.2:c.1976C>T | ENSP00000453513.2:p.Pro659Leu | |
| ENST00000558518.6:c.2096C>T MANE Select | ENSP00000454071.1:p.Pro699Leu | |
| ENST00000252444.9:c.2350C>T | ||
| ENST00000455727.6:c.1592C>T | ENSP00000397829.2:p.Pro531Leu | |
| ENST00000535915.5:c.1973C>T | ENSP00000440520.1:p.Pro658Leu | |
| ENST00000545707.5:c.1606+245C>T | ENSP00000437639.1:n.1606+245C>T | |
| ENST00000557933.5:c.2096C>T | ENSP00000453557.1:p.Pro699Leu | |
| ENST00000558013.5:c.2096C>T | ENSP00000453346.1:p.Pro699Leu | |
| ENST00000558518.5:c.2096C>T | ENSP00000454071.1:p.Pro699Leu | |
| NM_000527.4:c.2096C>T , LRG_274t1:c.2096C>T | NP_000518.1:p.Pro699Leu | |
| NM_001195798.1:c.2096C>T | NP_001182727.1:p.Pro699Leu | |
| NM_001195799.1:c.1973C>T | NP_001182728.1:p.Pro658Leu | |
| NM_001195800.1:c.1592C>T | NP_001182729.1:p.Pro531Leu | |
| NM_001195803.1:c.1606+245C>T | NP_001182732.1:n.1606+245C>T | |
| XM_011528010.1:c.2096C>T | XP_011526312.1:p.Pro699Leu | |
| XM_011528011.1:c.1715C>T | XP_011526313.1:p.Pro572Leu | |
| XR_244074.2:n.2106C>T | ||
| XM_011528010.2:c.2096C>T | XP_011526312.1:p.Pro699Leu | |
| XR_001753685.2:n.2213C>T | ||
| XR_001753686.2:n.2073C>T | ||
| NM_000527.5:c.2096C>T MANE Select | NP_000518.1:p.Pro699Leu | |
| NM_001195798.2:c.2096C>T | NP_001182727.1:p.Pro699Leu | |
| NM_001195799.2:c.1973C>T | NP_001182728.1:p.Pro658Leu | |
| NM_001195800.2:c.1592C>T | NP_001182729.1:p.Pro531Leu | |
| NM_001195803.2:c.1606+245C>T | NP_001182732.1:n.1606+245C>T |