Linked Data
ClinVar Variation Id:
403664
ClinVar RCV Id:
RCV002526380
dbSNP Id:
rs1060499932
gnomAD v2:
19-11231117-A-T
gnomAD v4:
19-11120441-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120441A>T , CM000681.2:g.11120441A>T | GRCh38 |
| NC_000019.9:g.11231117A>T , CM000681.1:g.11231117A>T | GRCh37 |
| NC_000019.8:g.11092117A>T | NCBI36 |
| NG_009060.1:g.36061A>T , LRG_274:g.36061A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.2317A>T | ENSP00000252444.6:p.Ile773Phe | |
| ENST00000559340.2:c.*128A>T | ENSP00000453696.2:n.*128A>T | |
| ENST00000560467.2:c.1939A>T | ENSP00000453513.2:p.Ile647Phe | |
| ENST00000558518.6:c.2059A>T MANE Select | ENSP00000454071.1:p.Ile687Phe | |
| ENST00000252444.9:c.2313A>T | ||
| ENST00000455727.6:c.1555A>T | ENSP00000397829.2:p.Ile519Phe | |
| ENST00000535915.5:c.1936A>T | ENSP00000440520.1:p.Ile646Phe | |
| ENST00000545707.5:c.1606+208A>T | ENSP00000437639.1:n.1606+208A>T | |
| ENST00000557933.5:c.2059A>T | ENSP00000453557.1:p.Ile687Phe | |
| ENST00000558013.5:c.2059A>T | ENSP00000453346.1:p.Ile687Phe | |
| ENST00000558518.5:c.2059A>T | ENSP00000454071.1:p.Ile687Phe | |
| NM_000527.4:c.2059A>T , LRG_274t1:c.2059A>T | NP_000518.1:p.Ile687Phe | |
| NM_001195798.1:c.2059A>T | NP_001182727.1:p.Ile687Phe | |
| NM_001195799.1:c.1936A>T | NP_001182728.1:p.Ile646Phe | |
| NM_001195800.1:c.1555A>T | NP_001182729.1:p.Ile519Phe | |
| NM_001195803.1:c.1606+208A>T | NP_001182732.1:n.1606+208A>T | |
| XM_011528010.1:c.2059A>T | XP_011526312.1:p.Ile687Phe | |
| XM_011528011.1:c.1678A>T | XP_011526313.1:p.Ile560Phe | |
| XR_244074.2:n.2069A>T | ||
| XM_011528010.2:c.2059A>T | XP_011526312.1:p.Ile687Phe | |
| XR_001753685.2:n.2176A>T | ||
| XR_001753686.2:n.2036A>T | ||
| NM_000527.5:c.2059A>T MANE Select | NP_000518.1:p.Ile687Phe | |
| NM_001195798.2:c.2059A>T | NP_001182727.1:p.Ile687Phe | |
| NM_001195799.2:c.1936A>T | NP_001182728.1:p.Ile646Phe | |
| NM_001195800.2:c.1555A>T | NP_001182729.1:p.Ile519Phe | |
| NM_001195803.2:c.1606+208A>T | NP_001182732.1:n.1606+208A>T |