Linked Data
ClinVar Variation Id:
485018
dbSNP Id:
rs370976710
ExAC:
19:1220600 G / C
gnomAD v2:
19-1220600-G-C
gnomAD v4:
19-1220601-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220601G>C , CM000681.2:g.1220601G>C | GRCh38 |
| NC_000019.9:g.1220600G>C , CM000681.1:g.1220600G>C | GRCh37 |
| NC_000019.8:g.1171600G>C | NCBI36 |
| NG_007460.2:g.36195G>C , LRG_319:g.36195G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.618G>C | ENSP00000490268.2:p.Ala206= | |
| ENST00000585748.3:c.246G>C | ENSP00000477641.2:p.Ala82= | |
| ENST00000585851.2:c.444G>C | ENSP00000467912.2:p.Ala148= | |
| ENST00000326873.12:c.618G>C MANE Select | ENSP00000324856.6:p.Ala206= | |
| ENST00000652231.1:c.618G>C | ENSP00000498804.1:p.Ala206= | |
| ENST00000326873.11:c.618G>C | ENSP00000324856.6:p.Ala206= | |
| ENST00000585851.1:c.444G>C | ENSP00000467912.1:p.Ala148= | |
| ENST00000586243.5:c.618G>C | ENSP00000467240.2:p.Ala206= | |
| ENST00000586358.5:n.516G>C | ||
| ENST00000589152.5:n.708G>C | ||
| ENST00000591133.2:n.589G>C | ||
| NM_000455.4:c.618G>C , LRG_319t1:c.618G>C | NP_000446.1:p.Ala206= | |
| XM_005259617.1:c.618G>C | XP_005259674.1:p.Ala206= | |
| XM_005259618.3:c.618G>C | XP_005259675.1:p.Ala206= | |
| XM_011528209.1:c.396G>C | XP_011526511.1:p.Ala132= | |
| XR_936204.1:n.1243G>C | ||
| XM_005259617.3:c.618G>C | XP_005259674.1:p.Ala206= | |
| XM_011528209.2:c.396G>C | XP_011526511.1:p.Ala132= | |
| XR_001753738.2:n.1243G>C | ||
| XR_001753739.1:n.1243G>C | ||
| XR_001753740.2:n.1243G>C | ||
| NM_000455.5:c.618G>C MANE Select | NP_000446.1:p.Ala206= |