Linked Data
ClinVar Variation Id:
926526
ClinVar RCV Id:
RCV001189133
dbSNP Id:
rs761004553
ExAC:
19:11224218 C / T
gnomAD v2:
19-11224218-C-T
gnomAD v4:
19-11113542-C-T
ERepo:
CA034017/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113542C>T , CM000681.2:g.11113542C>T | GRCh38 |
| NC_000019.9:g.11224218C>T , CM000681.1:g.11224218C>T | GRCh37 |
| NC_000019.8:g.11085218C>T | NCBI36 |
| NG_009060.1:g.29162C>T , LRG_274:g.29162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1624C>T | ENSP00000252444.6:p.Leu542Phe | |
| ENST00000559340.2:c.1366C>T | ENSP00000453696.2:p.Leu456Phe | |
| ENST00000560467.2:c.1246C>T | ENSP00000453513.2:p.Leu416Phe | |
| ENST00000558518.6:c.1366C>T MANE Select | ENSP00000454071.1:p.Leu456Phe | |
| ENST00000252444.9:c.1620C>T | ||
| ENST00000455727.6:c.862C>T | ENSP00000397829.2:p.Leu288Phe | |
| ENST00000535915.5:c.1243C>T | ENSP00000440520.1:p.Leu415Phe | |
| ENST00000545707.5:c.985C>T | ENSP00000437639.1:p.Leu329Phe | |
| ENST00000557933.5:c.1366C>T | ENSP00000453557.1:p.Leu456Phe | |
| ENST00000558013.5:c.1366C>T | ENSP00000453346.1:p.Leu456Phe | |
| ENST00000558518.5:c.1366C>T | ENSP00000454071.1:p.Leu456Phe | |
| ENST00000559340.1:c.87C>T | ||
| ENST00000560467.1:c.846C>T | ||
| NM_000527.4:c.1366C>T , LRG_274t1:c.1366C>T | NP_000518.1:p.Leu456Phe | |
| NM_001195798.1:c.1366C>T | NP_001182727.1:p.Leu456Phe | |
| NM_001195799.1:c.1243C>T | NP_001182728.1:p.Leu415Phe | |
| NM_001195800.1:c.862C>T | NP_001182729.1:p.Leu288Phe | |
| NM_001195803.1:c.985C>T | NP_001182732.1:p.Leu329Phe | |
| XM_011528010.1:c.1366C>T | XP_011526312.1:p.Leu456Phe | |
| XM_011528011.1:c.985C>T | XP_011526313.1:p.Leu329Phe | |
| XR_244074.2:n.1516C>T | ||
| XM_011528010.2:c.1366C>T | XP_011526312.1:p.Leu456Phe | |
| XR_001753685.2:n.1483C>T | ||
| XR_001753686.2:n.1483C>T | ||
| NM_000527.5:c.1366C>T MANE Select | NP_000518.1:p.Leu456Phe | |
| NM_001195798.2:c.1366C>T | NP_001182727.1:p.Leu456Phe | |
| NM_001195799.2:c.1243C>T | NP_001182728.1:p.Leu415Phe | |
| NM_001195800.2:c.862C>T | NP_001182729.1:p.Leu288Phe | |
| NM_001195803.2:c.985C>T | NP_001182732.1:p.Leu329Phe |