Linked Data
ClinVar Variation Id:
221135
dbSNP Id:
rs754945004
gnomAD v2:
19-1226556-C-A
gnomAD v4:
19-1226557-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226557C>A , CM000681.2:g.1226557C>A | GRCh38 |
| NC_000019.9:g.1226556C>A , CM000681.1:g.1226556C>A | GRCh37 |
| NC_000019.8:g.1177556C>A | NCBI36 |
| NG_007460.2:g.42151C>A , LRG_319:g.42151C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2813C>A | ENSP00000490268.2:n.*2813C>A | |
| ENST00000585748.3:c.840C>A | ENSP00000477641.2:p.Ser280= | |
| ENST00000585851.2:c.1038C>A | ENSP00000467912.2:p.Ser346= | |
| ENST00000326873.12:c.1212C>A MANE Select | ENSP00000324856.6:p.Ser404= | |
| ENST00000326873.11:c.1212C>A | ENSP00000324856.6:p.Ser404= | |
| ENST00000585465.2:n.2945C>A | ||
| ENST00000586243.5:c.1212C>A | ENSP00000467240.2:p.Ser404= | |
| ENST00000589152.5:n.1910C>A | ||
| NM_000455.4:c.1212C>A , LRG_319t1:c.1212C>A | NP_000446.1:p.Ser404= | |
| XM_005259617.1:c.1207C>A | XP_005259674.1:p.Gln403Lys | |
| XM_011528209.1:c.985C>A | XP_011526511.1:p.Gln329Lys | |
| XM_005259617.3:c.1207C>A | XP_005259674.1:p.Gln403Lys | |
| XM_011528209.2:c.985C>A | XP_011526511.1:p.Gln329Lys | |
| XR_001753738.2:n.2018C>A | ||
| XR_001753740.2:n.1988C>A | ||
| NM_000455.5:c.1212C>A MANE Select | NP_000446.1:p.Ser404= |