Linked Data
dbSNP Id:
rs369455370
ExAC:
11:128709382 T / C
gnomAD v2:
11-128709382-T-C
gnomAD v3:
11-128839487-T-C
gnomAD v4:
11-128839487-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839487T>C , CM000673.2:g.128839487T>C | GRCh38 |
| NC_000011.9:g.128709382T>C , CM000673.1:g.128709382T>C | GRCh37 |
| NC_000011.8:g.128214592T>C | NCBI36 |
| NG_009379.1:g.32887A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.757A>G MANE Select | ENSP00000376434.1:p.Ile253Val | |
| ENST00000324036.7:c.757A>G | ENSP00000316233.3:p.Ile253Val | |
| ENST00000392664.2:c.814A>G | ENSP00000376432.2:p.Ile272Val | |
| ENST00000392665.6:c.757A>G | ENSP00000376433.2:p.Ile253Val | |
| ENST00000392666.5:c.757A>G | ENSP00000376434.1:p.Ile253Val | |
| ENST00000440599.6:c.757A>G | ENSP00000406320.2:p.Ile253Val | |
| NM_000220.4:c.814A>G | NP_000211.1:p.Ile272Val | |
| NM_153764.2:c.757A>G | NP_722448.1:p.Ile253Val | |
| NM_153765.2:c.808A>G | NP_722449.3:p.Ile270Val | |
| NM_153766.2:c.757A>G | NP_722450.1:p.Ile253Val | |
| NM_153767.3:c.757A>G | NP_722451.1:p.Ile253Val | |
| NM_000220.6:c.814A>G | NP_000211.1:p.Ile272Val | |
| NM_153764.3:c.757A>G | NP_722448.1:p.Ile253Val | |
| NM_153765.3:c.808A>G | NP_722449.3:p.Ile270Val | |
| NM_153766.3:c.757A>G MANE Select | NP_722450.1:p.Ile253Val | |
| NM_153767.4:c.757A>G | NP_722451.1:p.Ile253Val |