Linked Data
dbSNP Id:
rs3745274
ExAC:
19:41512841 G / A
gnomAD v2:
19-41512841-G-A
gnomAD v4:
19-41006936-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41006936G>A , CM000681.2:g.41006936G>A | GRCh38 |
| NC_000019.9:g.41512841G>A , CM000681.1:g.41512841G>A | GRCh37 |
| NC_000019.8:g.46204681G>A | NCBI36 |
| NG_007929.1:g.20638G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324071.10:c.516G>A MANE Select | ENSP00000324648.2:p.Gln172= | |
| ENST00000598834.2:c.418G>A | ||
| ENST00000324071.8:c.516G>A | ENSP00000324648.2:p.Gln172= | |
| ENST00000593831.1:c.256+2490G>A | ENSP00000470582.1:n.256+2490G>A | |
| ENST00000594187.1:n.100G>A | ||
| ENST00000598834.1:n.418G>A | ||
| NM_000767.4:c.516G>A | NP_000758.1:p.Gln172= | |
| XM_005258569.3:c.516G>A | XP_005258626.1:p.Gln172= | |
| XM_006723050.2:c.516G>A | XP_006723113.1:p.Gln172= | |
| XM_011526546.1:c.516G>A | XP_011524848.1:p.Gln172= | |
| XM_011526547.1:c.516G>A | XP_011524849.1:p.Gln172= | |
| XM_011526548.1:c.484+2490G>A | XP_011524850.1:n.484+2490G>A | |
| XM_011526549.1:c.-75-1G>A | XP_011524851.1:n.-75-1G>A | |
| XM_011526550.1:c.364+2490G>A | XP_011524852.1:n.364+2490G>A | |
| NM_000767.5:c.516G>A MANE Select | NP_000758.1:p.Gln172= |