Linked Data
ClinVar Variation Id:
2041000
ClinVar RCV Id:
RCV002890896
dbSNP Id:
rs1054584769
gnomAD v2:
22-18561199-G-A
gnomAD v3:
22-18078433-G-A
gnomAD v4:
22-18078433-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18078433G>A , CM000684.2:g.18078433G>A | GRCh38 |
| NC_000022.10:g.18561199G>A , CM000684.1:g.18561199G>A | GRCh37 |
| NC_000022.9:g.16941199G>A | NCBI36 |
| NG_008339.1:g.5514G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.57G>A MANE Select | ENSP00000382648.4:p.Leu19= | |
| ENST00000474897.6:c.57G>A | ENSP00000434235.2:p.Leu19= | |
| ENST00000329627.11:c.57G>A | ENSP00000331106.5:p.Leu19= | |
| ENST00000399744.7:c.57G>A | ENSP00000382648.3:p.Leu19= | |
| ENST00000428061.2:c.57G>A | ENSP00000412441.2:p.Leu19= | |
| ENST00000474897.5:c.57G>A | ENSP00000434235.1:p.Leu19= | |
| ENST00000610387.4:c.57G>A | ENSP00000482091.1:p.Leu19= | |
| NM_001127649.2:c.57G>A | NP_001121121.1:p.Leu19= | |
| NM_001199319.1:c.57G>A | NP_001186248.1:p.Leu19= | |
| NM_017929.5:c.57G>A | NP_060399.1:p.Leu19= | |
| NM_001127649.3:c.57G>A MANE Select | NP_001121121.1:p.Leu19= | |
| NM_001199319.2:c.57G>A | NP_001186248.1:p.Leu19= | |
| NM_017929.6:c.57G>A | NP_060399.1:p.Leu19= |