Linked Data
ClinVar Variation Id:
633438
dbSNP Id:
rs1459406168
gnomAD v3:
19-1226593-G-C
gnomAD v4:
19-1226593-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226593G>C , CM000681.2:g.1226593G>C | GRCh38 |
| NC_000019.9:g.1226592G>C , CM000681.1:g.1226592G>C | GRCh37 |
| NC_000019.8:g.1177592G>C | NCBI36 |
| NG_007460.2:g.42187G>C , LRG_319:g.42187G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2849G>C | ENSP00000490268.2:n.*2849G>C | |
| ENST00000585748.3:c.876G>C | ENSP00000477641.2:p.Lys292Asn | |
| ENST00000585851.2:c.1074G>C | ENSP00000467912.2:p.Lys358Asn | |
| ENST00000326873.12:c.1248G>C MANE Select | ENSP00000324856.6:p.Lys416Asn | |
| ENST00000326873.11:c.1248G>C | ENSP00000324856.6:p.Lys416Asn | |
| ENST00000585465.2:n.2981G>C | ||
| ENST00000586243.5:c.1247G>C | ENSP00000467240.2:p.Arg416Thr | |
| ENST00000589152.5:n.1946G>C | ||
| NM_000455.4:c.1248G>C , LRG_319t1:c.1248G>C | NP_000446.1:p.Lys416Asn | |
| XM_005259617.1:c.1243G>C | XP_005259674.1:p.Gly415Arg | |
| XM_011528209.1:c.1021G>C | XP_011526511.1:p.Gly341Arg | |
| XM_005259617.3:c.1243G>C | XP_005259674.1:p.Gly415Arg | |
| XM_011528209.2:c.1021G>C | XP_011526511.1:p.Gly341Arg | |
| XR_001753738.2:n.2054G>C | ||
| XR_001753740.2:n.2024G>C | ||
| NM_000455.5:c.1248G>C MANE Select | NP_000446.1:p.Lys416Asn |