Linked Data
ClinVar Variation Id:
340928
dbSNP Id:
rs755104394
ExAC:
22:24891397 T / C
gnomAD v2:
22-24891397-T-C
gnomAD v3:
22-24495429-T-C
gnomAD v4:
22-24495429-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24495429T>C , CM000684.2:g.24495429T>C | GRCh38 |
| NC_000022.10:g.24891397T>C , CM000684.1:g.24891397T>C | GRCh37 |
| NC_000022.9:g.23221397T>C | NCBI36 |
| NG_012858.1:g.5147T>C | |
| NG_012858.2:g.5147T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326010.10:c.26T>C MANE Select | ENSP00000324343.5:p.Leu9Pro | |
| ENST00000326010.9:c.26T>C | ENSP00000324343.5:p.Leu9Pro | |
| ENST00000382760.2:c.26T>C | ENSP00000372208.2:p.Leu9Pro | |
| ENST00000415388.5:c.26T>C | ENSP00000400684.1:p.Leu9Pro | |
| NM_016327.2:c.26T>C | NP_057411.1:p.Leu9Pro | |
| XM_011530222.1:c.26T>C | XP_011528524.1:p.Leu9Pro | |
| XM_011530223.1:c.26T>C | XP_011528525.1:p.Leu9Pro | |
| XM_011530224.1:c.26T>C | XP_011528526.1:p.Leu9Pro | |
| XM_011530225.1:c.-417T>C | XP_011528527.1:n.-417T>C | |
| XR_937867.1:n.963T>C | ||
| XM_011530222.2:c.26T>C | XP_011528524.1:p.Leu9Pro | |
| XM_011530223.2:c.26T>C | XP_011528525.1:p.Leu9Pro | |
| XM_011530224.2:c.26T>C | XP_011528526.1:p.Leu9Pro | |
| XM_011530225.2:c.-417T>C | XP_011528527.1:n.-417T>C | |
| XM_017028825.1:c.26T>C | XP_016884314.1:p.Leu9Pro | |
| XM_017028826.1:c.26T>C | XP_016884315.1:p.Leu9Pro | |
| XM_017028827.2:c.26T>C | XP_016884316.1:p.Leu9Pro | |
| XM_017028828.1:c.26T>C | XP_016884317.1:p.Leu9Pro | |
| XR_001755249.1:n.370T>C | ||
| XR_001755250.1:n.370T>C | ||
| XR_937867.2:n.370T>C | ||
| NM_016327.3:c.26T>C MANE Select | NP_057411.1:p.Leu9Pro |