Linked Data
ClinVar Variation Id:
2358577
ClinVar RCV Id:
RCV004191393
dbSNP Id:
rs879104864
gnomAD v2:
5-176520277-A-C
gnomAD v3:
5-177093276-A-C
gnomAD v4:
5-177093276-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177093276A>C , CM000667.2:g.177093276A>C | GRCh38 |
| NC_000005.9:g.176520277A>C , CM000667.1:g.176520277A>C | GRCh37 |
| NC_000005.8:g.176452883A>C | NCBI36 |
| NG_012067.1:g.11357A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.1196A>C MANE Select | ENSP00000292408.4:p.His399Pro | |
| ENST00000292408.8:c.1196A>C | ENSP00000292408.4:p.His399Pro | |
| ENST00000393637.5:c.1058-56A>C | ENSP00000377254.1:n.1058-56A>C | |
| ENST00000393648.6:c.1097+99A>C | ENSP00000377259.2:n.1097+99A>C | |
| ENST00000502906.5:c.1196A>C | ENSP00000424960.1:p.His399Pro | |
| ENST00000508139.1:n.500A>C | ||
| ENST00000511076.1:c.102A>C | ||
| NM_001291980.1:c.1097+99A>C | NP_001278909.1:n.1097+99A>C | |
| NM_002011.4:c.1196A>C | NP_002002.3:p.His399Pro | |
| NM_022963.3:c.1058-56A>C | NP_075252.2:n.1058-56A>C | |
| NM_213647.2:c.1196A>C | NP_998812.1:p.His399Pro | |
| XM_005265838.2:c.1196A>C | XP_005265895.1:p.His399Pro | |
| XM_011534464.1:c.1289A>C | XP_011532766.1:p.His430Pro | |
| XM_011534465.1:c.878A>C | XP_011532767.1:p.His293Pro | |
| XR_941090.1:n.1241A>C | ||
| NM_001354984.1:c.1196A>C | NP_001341913.1:p.His399Pro | |
| NM_213647.3:c.1196A>C MANE Select | NP_998812.1:p.His399Pro | |
| NM_001291980.2:c.1097+99A>C | NP_001278909.1:n.1097+99A>C | |
| NM_001354984.2:c.1196A>C | NP_001341913.1:p.His399Pro | |
| NM_002011.5:c.1196A>C | NP_002002.3:p.His399Pro |