Linked Data
ClinVar Variation Id:
480719
ClinVar RCV Id:
RCV000564286
dbSNP Id:
rs1555734974
gnomAD v4:
19-1207057-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1207057G>A , CM000681.2:g.1207057G>A | GRCh38 |
| NC_000019.9:g.1207056G>A , CM000681.1:g.1207056G>A | GRCh37 |
| NC_000019.8:g.1158056G>A | NCBI36 |
| NG_007460.2:g.22651G>A , LRG_319:g.22651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.144G>A | ENSP00000490268.2:p.Lys48= | |
| ENST00000585748.3:c.-82-11360G>A | ENSP00000477641.2:n.-82-11360G>A | |
| ENST00000585851.2:c.144G>A | ENSP00000467912.2:p.Lys48= | |
| ENST00000326873.12:c.144G>A MANE Select | ENSP00000324856.6:p.Lys48= | |
| ENST00000652231.1:c.144G>A | ENSP00000498804.1:p.Lys48= | |
| ENST00000326873.11:c.144G>A | ENSP00000324856.6:p.Lys48= | |
| ENST00000585748.2:c.-82-11360G>A | ENSP00000477641.1:n.-82-11360G>A | |
| ENST00000585851.1:c.144G>A | ENSP00000467912.1:p.Lys48= | |
| ENST00000586243.5:c.144G>A | ENSP00000467240.2:p.Lys48= | |
| ENST00000589152.5:n.234G>A | ||
| ENST00000593219.5:c.144G>A | ENSP00000466610.1:p.Lys48= | |
| NM_000455.4:c.144G>A , LRG_319t1:c.144G>A | NP_000446.1:p.Lys48= | |
| XM_005259617.1:c.144G>A | XP_005259674.1:p.Lys48= | |
| XM_005259618.3:c.144G>A | XP_005259675.1:p.Lys48= | |
| XM_011528209.1:c.-210G>A | XP_011526511.1:n.-210G>A | |
| XR_936204.1:n.769G>A | ||
| XM_005259617.3:c.144G>A | XP_005259674.1:p.Lys48= | |
| XM_011528209.2:c.-210G>A | XP_011526511.1:n.-210G>A | |
| XR_001753738.2:n.769G>A | ||
| XR_001753739.1:n.769G>A | ||
| XR_001753740.2:n.769G>A | ||
| NM_000455.5:c.144G>A MANE Select | NP_000446.1:p.Lys48= |