Linked Data
ClinVar Variation Id:
195788
dbSNP Id:
rs148153079
ExAC:
1:216262444 C / T
gnomAD v2:
1-216262444-C-T
gnomAD v3:
1-216089102-C-T
gnomAD v4:
1-216089102-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216089102C>T , CM000663.2:g.216089102C>T | GRCh38 |
| NC_000001.10:g.216262444C>T , CM000663.1:g.216262444C>T | GRCh37 |
| NC_000001.9:g.214329067C>T | NCBI36 |
| NG_009497.1:g.339295G>A | |
| NG_009497.2:g.339347G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.4796G>A MANE Select | ENSP00000305941.3:p.Gly1599Asp | |
| ENST00000674083.1:c.4796G>A | ENSP00000501296.1:p.Gly1599Asp | |
| ENST00000307340.7:c.4796G>A | ENSP00000305941.3:p.Gly1599Asp | |
| ENST00000481786.1:n.38G>A | ||
| NM_206933.2:c.4796G>A | NP_996816.2:p.Gly1599Asp | |
| NM_206933.3:c.4796G>A | NP_996816.2:p.Gly1599Asp | |
| NM_206933.4:c.4796G>A MANE Select | NP_996816.3:p.Gly1599Asp |