Linked Data
ClinVar Variation Id:
341904
dbSNP Id:
rs778343270
ExAC:
22:42457016 A / G
gnomAD v2:
22-42457016-A-G
gnomAD v3:
22-42061012-A-G
gnomAD v4:
22-42061012-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42061012A>G , CM000684.2:g.42061012A>G | GRCh38 |
| NC_000022.10:g.42457016A>G , CM000684.1:g.42457016A>G | GRCh37 |
| NC_000022.9:g.40786962A>G | NCBI36 |
| NG_009247.1:g.14831T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.1013T>C MANE Select | ENSP00000379680.3:p.Leu338Ser | |
| ENST00000396398.7:c.1013T>C | ENSP00000379680.3:p.Leu338Ser | |
| ENST00000402937.1:c.1013T>C | ENSP00000384603.1:p.Leu338Ser | |
| ENST00000403363.5:c.1013T>C | ENSP00000385283.1:p.Leu338Ser | |
| NM_000262.2:c.1013T>C | NP_000253.1:p.Leu338Ser | |
| XM_005261615.3:c.1013T>C | XP_005261672.1:p.Leu338Ser | |
| XM_005261616.3:c.1013T>C | XP_005261673.1:p.Leu338Ser | |
| NM_001362848.1:c.1013T>C | NP_001349777.1:p.Leu338Ser | |
| NM_001362850.1:c.1013T>C | NP_001349779.1:p.Leu338Ser | |
| NM_000262.3:c.1013T>C MANE Select | NP_000253.1:p.Leu338Ser |