Linked Data
ClinVar Variation Id:
96673
dbSNP Id:
rs7216673
ExAC:
17:73512653 G / T
gnomAD v2:
17-73512653-G-T
gnomAD v3:
17-75516572-G-T
gnomAD v4:
17-75516572-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516572G>T , CM000679.2:g.75516572G>T | GRCh38 |
| NC_000017.10:g.73512653G>T , CM000679.1:g.73512653G>T | GRCh37 |
| NC_000017.9:g.71024248G>T | NCBI36 |
| NG_013041.1:g.5045G>T | |
| NG_033152.1:g.4012C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.12G>T MANE Select | ENSP00000327487.6:p.Glu4Asp | |
| ENST00000434205.8:c.-83+186G>T | ENSP00000406559.4:n.-83+186G>T | |
| ENST00000545228.3:c.12G>T | ENSP00000438169.3:p.Glu4Asp | |
| ENST00000580013.6:n.21G>T | ||
| ENST00000583818.2:c.12G>T | ENSP00000461928.2:p.Glu4Asp | |
| ENST00000679370.1:n.444-174G>T | ||
| ENST00000679429.1:c.12G>T | ENSP00000505403.1:p.Glu4Asp | |
| ENST00000679782.1:c.12G>T | ENSP00000505995.1:p.Glu4Asp | |
| ENST00000679928.1:c.12G>T | ENSP00000506071.1:p.Glu4Asp | |
| ENST00000680528.1:n.37G>T | ||
| ENST00000680999.1:c.12G>T | ENSP00000504984.1:p.Glu4Asp | |
| ENST00000681282.1:c.12G>T | ENSP00000506339.1:p.Glu4Asp | |
| ENST00000333213.10:c.12G>T | ENSP00000327487.6:p.Glu4Asp | |
| ENST00000434205.7:c.-83+186G>T | ENSP00000406559.3:n.-83+186G>T | |
| ENST00000580013.5:n.37G>T | ||
| ENST00000583173.5:c.12G>T | ENSP00000463619.1:p.Glu4Asp | |
| ENST00000583454.1:n.47G>T | ||
| NM_207346.2:c.12G>T | NP_997229.2:p.Glu4Asp | |
| XM_005257229.2:c.12G>T | XP_005257286.1:p.Glu4Asp | |
| XM_006721821.2:c.-247-174G>T | XP_006721884.1:n.-247-174G>T | |
| XM_011524616.1:c.12G>T | XP_011522918.1:p.Glu4Asp | |
| XM_011524617.1:c.12G>T | XP_011522919.1:p.Glu4Asp | |
| XM_011524618.1:c.12G>T | XP_011522920.1:p.Glu4Asp | |
| XR_243646.2:n.42G>T | ||
| XM_005257229.4:c.12G>T | XP_005257286.1:p.Glu4Asp | |
| XR_243646.4:n.48G>T | ||
| NM_207346.3:c.12G>T MANE Select | NP_997229.2:p.Glu4Asp |