Linked Data
dbSNP Id:
rs764384241
ExAC:
17:79596820 G / A
gnomAD v2:
17-79596820-G-A
gnomAD v4:
17-81629794-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81629794G>A , CM000679.2:g.81629794G>A | GRCh38 |
| NC_000017.10:g.79596820G>A , CM000679.1:g.79596820G>A | GRCh37 |
| NC_000017.9:g.77207225G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000705719.1:c.156C>T | ENSP00000516165.1:p.Val52= | |
| ENST00000331134.11:c.27C>T MANE Select | ENSP00000331487.5:p.Val9= | |
| ENST00000331134.10:c.27C>T | ENSP00000331487.5:p.Val9= | |
| ENST00000374747.9:c.27C>T | ENSP00000363879.5:p.Val9= | |
| ENST00000570300.1:n.48C>T | ||
| ENST00000574897.5:c.27C>T | ENSP00000461543.1:p.Val9= | |
| ENST00000625705.1:c.24C>T | ENSP00000486640.1:p.Val8= | |
| NM_017921.3:c.27C>T | NP_060391.2:p.Val9= | |
| XM_011524979.1:c.27C>T | XP_011523281.1:p.Val9= | |
| XM_011524980.1:c.27C>T | XP_011523282.1:p.Val9= | |
| XM_011524981.1:c.27C>T | XP_011523283.1:p.Val9= | |
| XM_011524982.1:c.27C>T | XP_011523284.1:p.Val9= | |
| XR_934501.1:n.245C>T | ||
| XR_934502.1:n.245C>T | ||
| XM_011524982.2:c.27C>T | XP_011523284.1:p.Val9= | |
| XR_001752557.1:n.245C>T | ||
| NM_017921.4:c.27C>T MANE Select | NP_060391.2:p.Val9= | |
| NM_001369698.1:c.27C>T | NP_001356627.1:p.Val9= |