Linked Data
ClinVar Variation Id:
219936
dbSNP Id:
rs370130178
ExAC:
19:1218431 G / C
gnomAD v2:
19-1218431-G-C
gnomAD v3:
19-1218432-G-C
gnomAD v4:
19-1218432-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1218432G>C , CM000681.2:g.1218432G>C | GRCh38 |
| NC_000019.9:g.1218431G>C , CM000681.1:g.1218431G>C | GRCh37 |
| NC_000019.8:g.1169431G>C | NCBI36 |
| NG_007460.2:g.34026G>C , LRG_319:g.34026G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.306G>C | ENSP00000490268.2:p.Leu102= | |
| ENST00000585748.3:c.-67G>C | ENSP00000477641.2:n.-67G>C | |
| ENST00000585851.2:c.291-1941G>C | ENSP00000467912.2:n.291-1941G>C | |
| ENST00000326873.12:c.306G>C MANE Select | ENSP00000324856.6:p.Leu102= | |
| ENST00000652231.1:c.306G>C | ENSP00000498804.1:p.Leu102= | |
| ENST00000326873.11:c.306G>C | ENSP00000324856.6:p.Leu102= | |
| ENST00000585748.2:c.-67G>C | ENSP00000477641.1:n.-67G>C | |
| ENST00000585851.1:c.291-1941G>C | ENSP00000467912.1:n.291-1941G>C | |
| ENST00000586243.5:c.306G>C | ENSP00000467240.2:p.Leu102= | |
| ENST00000586358.5:n.129G>C | ||
| ENST00000589152.5:n.396G>C | ||
| ENST00000593219.5:c.*131G>C | ENSP00000466610.1:n.*131G>C | |
| NM_000455.4:c.306G>C , LRG_319t1:c.306G>C | NP_000446.1:p.Leu102= | |
| XM_005259617.1:c.306G>C | XP_005259674.1:p.Leu102= | |
| XM_005259618.3:c.306G>C | XP_005259675.1:p.Leu102= | |
| XM_011528209.1:c.84G>C | XP_011526511.1:p.Leu28= | |
| XR_936204.1:n.931G>C | ||
| XM_005259617.3:c.306G>C | XP_005259674.1:p.Leu102= | |
| XM_011528209.2:c.84G>C | XP_011526511.1:p.Leu28= | |
| XR_001753738.2:n.931G>C | ||
| XR_001753739.1:n.931G>C | ||
| XR_001753740.2:n.931G>C | ||
| NM_000455.5:c.306G>C MANE Select | NP_000446.1:p.Leu102= |