Linked Data
dbSNP Id:
rs752040425
ExAC:
17:79596828 T / C
gnomAD v2:
17-79596828-T-C
gnomAD v4:
17-81629802-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81629802T>C , CM000679.2:g.81629802T>C | GRCh38 |
| NC_000017.10:g.79596828T>C , CM000679.1:g.79596828T>C | GRCh37 |
| NC_000017.9:g.77207233T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000705719.1:c.148A>G | ENSP00000516165.1:p.Ile50Val | |
| ENST00000331134.11:c.19A>G MANE Select | ENSP00000331487.5:p.Ile7Val | |
| ENST00000331134.10:c.19A>G | ENSP00000331487.5:p.Ile7Val | |
| ENST00000374747.9:c.19A>G | ENSP00000363879.5:p.Ile7Val | |
| ENST00000570300.1:n.40A>G | ||
| ENST00000574897.5:c.19A>G | ENSP00000461543.1:p.Ile7Val | |
| ENST00000625705.1:c.16A>G | ENSP00000486640.1:p.Ile6Val | |
| NM_017921.3:c.19A>G | NP_060391.2:p.Ile7Val | |
| XM_011524979.1:c.19A>G | XP_011523281.1:p.Ile7Val | |
| XM_011524980.1:c.19A>G | XP_011523282.1:p.Ile7Val | |
| XM_011524981.1:c.19A>G | XP_011523283.1:p.Ile7Val | |
| XM_011524982.1:c.19A>G | XP_011523284.1:p.Ile7Val | |
| XR_934501.1:n.237A>G | ||
| XR_934502.1:n.237A>G | ||
| XM_011524982.2:c.19A>G | XP_011523284.1:p.Ile7Val | |
| XR_001752557.1:n.237A>G | ||
| NM_017921.4:c.19A>G MANE Select | NP_060391.2:p.Ile7Val | |
| NM_001369698.1:c.19A>G | NP_001356627.1:p.Ile7Val |