Linked Data
ClinVar Variation Id:
477583
dbSNP Id:
rs75623534
ExAC:
2:85769047 A / G
gnomAD v2:
2-85769047-A-G
gnomAD v3:
2-85541924-A-G
gnomAD v4:
2-85541924-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85541924A>G , CM000664.2:g.85541924A>G | GRCh38 |
| NC_000002.11:g.85769047A>G , CM000664.1:g.85769047A>G | GRCh37 |
| NC_000002.10:g.85622558A>G | NCBI36 |
| NG_029183.1:g.7947A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306434.8:c.501A>G MANE Select | ENSP00000303147.3:p.Leu167= | |
| ENST00000306434.7:c.501A>G | ENSP00000303147.3:p.Leu167= | |
| ENST00000409017.1:c.312A>G | ENSP00000386353.1:p.Leu104= | |
| ENST00000481412.5:n.479A>G | ||
| ENST00000490878.1:n.360A>G | ||
| NM_005911.5:c.501A>G | NP_005902.1:p.Leu167= | |
| NM_005911.6:c.501A>G MANE Select | NP_005902.1:p.Leu167= |