Linked Data
ClinVar Variation Id:
357272
ClinVar RCV Id:
RCV000919710
dbSNP Id:
rs371608614
ExAC:
6:50786652 T / G
gnomAD v2:
6-50786652-T-G
gnomAD v3:
6-50818939-T-G
gnomAD v4:
6-50818939-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50818939T>G , CM000668.2:g.50818939T>G | GRCh38 |
| NC_000006.11:g.50786652T>G , CM000668.1:g.50786652T>G | GRCh37 |
| NC_000006.10:g.50894611T>G | NCBI36 |
| NG_008438.1:g.5214T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393655.4:c.48T>G MANE Select | ENSP00000377265.2:p.Leu16= | |
| ENST00000344788.7:c.15T>G | ENSP00000342252.3:p.Leu5= | |
| ENST00000393655.3:c.48T>G | ENSP00000377265.2:p.Leu16= | |
| NM_003221.3:c.48T>G | NP_003212.2:p.Leu16= | |
| XM_006715176.2:c.48T>G | XP_006715239.1:p.Leu16= | |
| XM_011514834.1:c.48T>G | XP_011513136.1:p.Leu16= | |
| XM_011514835.1:c.48T>G | XP_011513137.1:p.Leu16= | |
| XM_011514836.1:c.48T>G | XP_011513138.1:p.Leu16= | |
| XM_011514837.1:c.48T>G | XP_011513139.1:p.Leu16= | |
| XM_011514837.2:c.48T>G | XP_011513139.1:p.Leu16= | |
| XM_017011233.1:c.140T>G | XP_016866722.1:p.Leu47Trp | |
| XM_017011234.1:c.104T>G | XP_016866723.1:p.Leu35Trp | |
| XM_017011235.2:c.48T>G | XP_016866724.1:p.Leu16= | |
| NM_003221.4:c.48T>G MANE Select | NP_003212.2:p.Leu16= |