Linked Data
ClinVar Variation Id:
456053
dbSNP Id:
rs56293456
ExAC:
16:624149 G / A
gnomAD v2:
16-624149-G-A
gnomAD v3:
16-574149-G-A
gnomAD v4:
16-574149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.574149G>A , CM000678.2:g.574149G>A | GRCh38 |
| NC_000016.9:g.624149G>A , CM000678.1:g.624149G>A | GRCh37 |
| NC_000016.8:g.564150G>A | NCBI36 |
| NG_034206.1:g.9182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321878.10:c.75G>A MANE Select | ENSP00000326674.6:p.Pro25= | |
| ENST00000636657.1:c.75G>A | ENSP00000490087.1:p.Pro25= | |
| ENST00000026218.9:c.75G>A | ENSP00000026218.5:p.Pro25= | |
| ENST00000293874.2:c.75G>A | ENSP00000293874.2:p.Pro25= | |
| ENST00000321878.9:c.75G>A | ENSP00000326674.5:p.Pro25= | |
| ENST00000409527.6:c.75G>A | ENSP00000386760.2:p.Pro25= | |
| ENST00000422307.6:c.75G>A | ENSP00000413753.2:p.Pro25= | |
| ENST00000439574.1:c.75G>A | ENSP00000387820.1:p.Pro25= | |
| ENST00000443147.5:c.117G>A | ENSP00000410434.1:p.Pro39= | |
| ENST00000470411.2:c.75G>A | ENSP00000439650.1:p.Pro25= | |
| NM_004204.3:c.75G>A | NP_004195.2:p.Pro25= | |
| NM_148920.2:c.75G>A | NP_683721.1:p.Pro25= | |
| NM_004204.5:c.75G>A MANE Select | NP_004195.2:p.Pro25= | |
| NM_148920.3:c.75G>A | NP_683721.1:p.Pro25= | |
| NM_148920.4:c.75G>A | NP_683721.1:p.Pro25= |