Linked Data
ClinVar Variation Id:
2090561
ClinVar RCV Id:
RCV003013165
dbSNP Id:
rs900328962
gnomAD v2:
19-11238737-G-T
gnomAD v4:
19-11128061-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128061G>T , CM000681.2:g.11128061G>T | GRCh38 |
| NC_000019.9:g.11238737G>T , CM000681.1:g.11238737G>T | GRCh37 |
| NC_000019.8:g.11099737G>T | NCBI36 |
| NG_009060.1:g.43681G>T , LRG_274:g.43681G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2623G>T | ENSP00000252444.6:p.Ala875Ser | |
| ENST00000559340.2:c.*434G>T | ENSP00000453696.2:n.*434G>T | |
| ENST00000560467.2:c.2245G>T | ENSP00000453513.2:p.Ala749Ser | |
| ENST00000558518.6:c.2365G>T MANE Select | ENSP00000454071.1:p.Ala789Ser | |
| ENST00000252444.9:c.2619G>T | ||
| ENST00000455727.6:c.1861G>T | ENSP00000397829.2:p.Ala621Ser | |
| ENST00000535915.5:c.2242G>T | ENSP00000440520.1:p.Ala748Ser | |
| ENST00000545707.5:c.1831G>T | ENSP00000437639.1:p.Ala611Ser | |
| ENST00000557933.5:c.2365G>T | ENSP00000453557.1:p.Ala789Ser | |
| ENST00000558013.5:c.2365G>T | ENSP00000453346.1:p.Ala789Ser | |
| ENST00000558518.5:c.2365G>T | ENSP00000454071.1:p.Ala789Ser | |
| ENST00000560628.1:n.108+407G>T | ||
| NM_000527.4:c.2365G>T , LRG_274t1:c.2365G>T | NP_000518.1:p.Ala789Ser | |
| NM_001195798.1:c.2365G>T | NP_001182727.1:p.Ala789Ser | |
| NM_001195799.1:c.2242G>T | NP_001182728.1:p.Ala748Ser | |
| NM_001195800.1:c.1861G>T | NP_001182729.1:p.Ala621Ser | |
| NM_001195803.1:c.1831G>T | NP_001182732.1:p.Ala611Ser | |
| XM_011528010.1:c.2312-1452G>T | XP_011526312.1:n.2312-1452G>T | |
| XM_011528011.1:c.1984G>T | XP_011526313.1:p.Ala662Ser | |
| XR_244074.2:n.2375G>T | ||
| XM_011528010.2:c.2312-1452G>T | XP_011526312.1:n.2312-1452G>T | |
| XR_001753685.2:n.2699G>T | ||
| XR_001753686.2:n.2342G>T | ||
| NM_000527.5:c.2365G>T MANE Select | NP_000518.1:p.Ala789Ser | |
| NM_001195798.2:c.2365G>T | NP_001182727.1:p.Ala789Ser | |
| NM_001195799.2:c.2242G>T | NP_001182728.1:p.Ala748Ser | |
| NM_001195800.2:c.1861G>T | NP_001182729.1:p.Ala621Ser | |
| NM_001195803.2:c.1831G>T | NP_001182732.1:p.Ala611Ser |