Linked Data
ClinVar Variation Id:
2438925
ClinVar RCV Id:
RCV003141260
dbSNP Id:
rs775059552
ExAC:
1:983617 C / A
gnomAD v2:
1-983617-C-A
gnomAD v4:
1-1048237-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1048237C>A , CM000663.2:g.1048237C>A | GRCh38 |
| NC_000001.10:g.983617C>A , CM000663.1:g.983617C>A | GRCh37 |
| NC_000001.9:g.973480C>A | NCBI36 |
| NG_016346.1:g.33115C>A , LRG_198:g.33115C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3977C>A MANE Select | ENSP00000368678.2:p.Pro1326His | |
| ENST00000651234.1:c.3662C>A | ENSP00000499046.1:p.Pro1221His | |
| ENST00000652369.1:c.3662C>A | ENSP00000498543.1:p.Pro1221His | |
| ENST00000379370.6:c.3977C>A | ENSP00000368678.2:p.Pro1326His | |
| ENST00000620552.4:c.3563C>A | ENSP00000484607.1:p.Pro1188His | |
| NM_001305275.1:c.3977C>A | NP_001292204.1:p.Pro1326His | |
| NM_198576.3:c.3977C>A | NP_940978.2:p.Pro1326His | |
| XM_005244749.2:c.3977C>A | XP_005244806.1:p.Pro1326His | |
| XM_006710635.2:c.3977C>A | XP_006710698.1:p.Pro1326His | |
| XM_011541429.1:c.3977C>A | XP_011539731.1:p.Pro1326His | |
| XM_011541430.1:c.3104C>A | XP_011539732.1:p.Pro1035His | |
| XM_011541431.1:c.2243C>A | XP_011539733.1:p.Pro748His | |
| XR_946650.1:n.4044C>A | ||
| NM_001364727.1:c.3662C>A | NP_001351656.1:p.Pro1221His | |
| XM_005244749.3:c.3977C>A | XP_005244806.1:p.Pro1326His | |
| XM_011541429.2:c.3977C>A | XP_011539731.1:p.Pro1326His | |
| XR_946650.2:n.4048C>A | ||
| NM_001305275.2:c.3977C>A | NP_001292204.1:p.Pro1326His | |
| NM_198576.4:c.3977C>A MANE Select | NP_940978.2:p.Pro1326His | |
| NM_001364727.2:c.3662C>A | NP_001351656.1:p.Pro1221His |