Linked Data
dbSNP Id:
rs145596510
gnomAD v3:
19-46608513-G-A
gnomAD v4:
19-46608513-G-A
MyVariant Identifiers:
chr19:g.47111770G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46608513G>A , CM000681.2:g.46608513G>A | GRCh38 |
| NC_000019.9:g.47111770G>A , CM000681.1:g.47111770G>A | GRCh37 |
| NC_000019.8:g.51803610G>A | NCBI36 |
| NG_051331.1:g.12440G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291295.14:c.210G>A MANE Select | ENSP00000291295.8:p.Leu70= | |
| ENST00000595072.2:n.2639G>A | ||
| ENST00000602169.2:c.*246G>A | ENSP00000499372.1:n.*246G>A | |
| ENST00000291295.13:c.210G>A | ENSP00000291295.8:p.Leu70= | |
| ENST00000391918.6:c.102G>A | ENSP00000375785.2:p.Leu34= | |
| ENST00000477244.5:n.334G>A | ||
| ENST00000482455.5:n.320G>A | ||
| ENST00000486500.1:n.411G>A | ||
| ENST00000594523.5:c.102G>A | ENSP00000468877.1:p.Leu34= | |
| ENST00000595072.1:n.400G>A | ||
| ENST00000596362.1:c.210G>A | ENSP00000472141.1:p.Leu70= | |
| ENST00000597743.5:c.165+186G>A | ENSP00000470308.1:n.165+186G>A | |
| ENST00000597868.5:n.278G>A | ||
| ENST00000598871.5:c.102G>A | ENSP00000470502.1:p.Leu34= | |
| ENST00000599839.5:c.102G>A | ENSP00000471225.1:p.Leu34= | |
| NM_005184.2:c.210G>A | NP_005175.2:p.Leu70= | |
| NM_001329921.1:c.102G>A | NP_001316850.1:p.Leu34= | |
| NM_001329922.1:c.210G>A | NP_001316851.1:p.Leu70= | |
| NM_001329923.1:c.102G>A | NP_001316852.1:p.Leu34= | |
| NM_001329924.1:c.102G>A | NP_001316853.1:p.Leu34= | |
| NM_001329925.1:c.102G>A | NP_001316854.1:p.Leu34= | |
| NM_001329926.1:c.102G>A | NP_001316855.1:p.Leu34= | |
| NM_005184.3:c.210G>A | NP_005175.2:p.Leu70= | |
| NM_001329924.2:c.102G>A | NP_001316853.1:p.Leu34= | |
| NM_001329925.2:c.102G>A | NP_001316854.1:p.Leu34= | |
| NM_001329926.2:c.102G>A | NP_001316855.1:p.Leu34= | |
| NM_005184.4:c.210G>A MANE Select | NP_005175.2:p.Leu70= |