Linked Data
ClinVar Variation Id:
1932218
ClinVar RCV Id:
RCV002622453
dbSNP Id:
rs1226320805
gnomAD v2:
17-73512659-G-T
gnomAD v3:
17-75516578-G-T
gnomAD v4:
17-75516578-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516578G>T , CM000679.2:g.75516578G>T | GRCh38 |
| NC_000017.10:g.73512659G>T , CM000679.1:g.73512659G>T | GRCh37 |
| NC_000017.9:g.71024254G>T | NCBI36 |
| NG_013041.1:g.5051G>T | |
| NG_033152.1:g.4006C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.18G>T MANE Select | ENSP00000327487.6:p.Glu6Asp | |
| ENST00000434205.8:c.-83+192G>T | ENSP00000406559.4:n.-83+192G>T | |
| ENST00000545228.3:c.18G>T | ENSP00000438169.3:p.Glu6Asp | |
| ENST00000580013.6:n.27G>T | ||
| ENST00000583818.2:c.18G>T | ENSP00000461928.2:p.Glu6Asp | |
| ENST00000679370.1:n.444-168G>T | ||
| ENST00000679429.1:c.18G>T | ENSP00000505403.1:p.Glu6Asp | |
| ENST00000679782.1:c.18G>T | ENSP00000505995.1:p.Glu6Asp | |
| ENST00000679928.1:c.18G>T | ENSP00000506071.1:p.Glu6Asp | |
| ENST00000680528.1:n.43G>T | ||
| ENST00000680999.1:c.18G>T | ENSP00000504984.1:p.Glu6Asp | |
| ENST00000681282.1:c.18G>T | ENSP00000506339.1:p.Glu6Asp | |
| ENST00000333213.10:c.18G>T | ENSP00000327487.6:p.Glu6Asp | |
| ENST00000434205.7:c.-83+192G>T | ENSP00000406559.3:n.-83+192G>T | |
| ENST00000580013.5:n.43G>T | ||
| ENST00000583173.5:c.18G>T | ENSP00000463619.1:p.Glu6Asp | |
| ENST00000583454.1:n.53G>T | ||
| NM_207346.2:c.18G>T | NP_997229.2:p.Glu6Asp | |
| XM_005257229.2:c.18G>T | XP_005257286.1:p.Glu6Asp | |
| XM_006721821.2:c.-247-168G>T | XP_006721884.1:n.-247-168G>T | |
| XM_011524616.1:c.18G>T | XP_011522918.1:p.Glu6Asp | |
| XM_011524617.1:c.18G>T | XP_011522919.1:p.Glu6Asp | |
| XM_011524618.1:c.18G>T | XP_011522920.1:p.Glu6Asp | |
| XR_243646.2:n.48G>T | ||
| XM_005257229.4:c.18G>T | XP_005257286.1:p.Glu6Asp | |
| XR_243646.4:n.54G>T | ||
| NM_207346.3:c.18G>T MANE Select | NP_997229.2:p.Glu6Asp |