Linked Data
dbSNP Id:
rs757799163
ExAC:
19:11238759 T / G
gnomAD v2:
19-11238759-T-G
gnomAD v4:
19-11128083-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128083T>G , CM000681.2:g.11128083T>G | GRCh38 |
| NC_000019.9:g.11238759T>G , CM000681.1:g.11238759T>G | GRCh37 |
| NC_000019.8:g.11099759T>G | NCBI36 |
| NG_009060.1:g.43703T>G , LRG_274:g.43703T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2645T>G | ENSP00000252444.6:p.Ile882Ser | |
| ENST00000559340.2:c.*456T>G | ENSP00000453696.2:n.*456T>G | |
| ENST00000560467.2:c.2267T>G | ENSP00000453513.2:p.Ile756Ser | |
| ENST00000558518.6:c.2387T>G MANE Select | ENSP00000454071.1:p.Ile796Ser | |
| ENST00000252444.9:c.2641T>G | ||
| ENST00000455727.6:c.1883T>G | ENSP00000397829.2:p.Ile628Ser | |
| ENST00000535915.5:c.2264T>G | ENSP00000440520.1:p.Ile755Ser | |
| ENST00000545707.5:c.1853T>G | ENSP00000437639.1:p.Ile618Ser | |
| ENST00000557933.5:c.2387T>G | ENSP00000453557.1:p.Ile796Ser | |
| ENST00000558013.5:c.2387T>G | ENSP00000453346.1:p.Ile796Ser | |
| ENST00000558518.5:c.2387T>G | ENSP00000454071.1:p.Ile796Ser | |
| ENST00000560628.1:n.108+429T>G | ||
| NM_000527.4:c.2387T>G , LRG_274t1:c.2387T>G | NP_000518.1:p.Ile796Ser | |
| NM_001195798.1:c.2387T>G | NP_001182727.1:p.Ile796Ser | |
| NM_001195799.1:c.2264T>G | NP_001182728.1:p.Ile755Ser | |
| NM_001195800.1:c.1883T>G | NP_001182729.1:p.Ile628Ser | |
| NM_001195803.1:c.1853T>G | NP_001182732.1:p.Ile618Ser | |
| XM_011528010.1:c.2312-1430T>G | XP_011526312.1:n.2312-1430T>G | |
| XM_011528011.1:c.2006T>G | XP_011526313.1:p.Ile669Ser | |
| XR_244074.2:n.2397T>G | ||
| XM_011528010.2:c.2312-1430T>G | XP_011526312.1:n.2312-1430T>G | |
| XR_001753685.2:n.2721T>G | ||
| XR_001753686.2:n.2364T>G | ||
| NM_000527.5:c.2387T>G MANE Select | NP_000518.1:p.Ile796Ser | |
| NM_001195798.2:c.2387T>G | NP_001182727.1:p.Ile796Ser | |
| NM_001195799.2:c.2264T>G | NP_001182728.1:p.Ile755Ser | |
| NM_001195800.2:c.1883T>G | NP_001182729.1:p.Ile628Ser | |
| NM_001195803.2:c.1853T>G | NP_001182732.1:p.Ile618Ser |