Linked Data
ClinVar Variation Id:
328630
dbSNP Id:
rs759794906
ExAC:
19:18901737 G / A
gnomAD v2:
19-18901737-G-A
gnomAD v3:
19-18790928-G-A
gnomAD v4:
19-18790928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18790928G>A , CM000681.2:g.18790928G>A | GRCh38 |
| NC_000019.9:g.18901737G>A , CM000681.1:g.18901737G>A | GRCh37 |
| NC_000019.8:g.18762737G>A | NCBI36 |
| NG_007070.1:g.5378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.87C>T MANE Select | ENSP00000222271.2:p.Asp29= | |
| ENST00000222271.6:c.87C>T | ENSP00000222271.2:p.Asp29= | |
| ENST00000425807.1:c.87C>T | ENSP00000403792.1:p.Asp29= | |
| ENST00000542601.6:c.-13C>T | ENSP00000439156.2:n.-13C>T | |
| NM_000095.2:c.87C>T | NP_000086.2:p.Asp29= | |
| NM_000095.3:c.87C>T MANE Select | NP_000086.2:p.Asp29= |