Linked Data
ClinVar Variation Id:
3110643
ClinVar RCV Id:
RCV004403041
dbSNP Id:
rs772234683
ExAC:
1:156500018 T / G
gnomAD v2:
1-156500018-T-G
gnomAD v4:
1-156530226-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156530226T>G , CM000663.2:g.156530226T>G | GRCh38 |
| NC_000001.10:g.156500018T>G , CM000663.1:g.156500018T>G | GRCh37 |
| NC_000001.9:g.154766642T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361170.7:c.4283A>C MANE Select | ENSP00000354451.2:p.His1428Pro | |
| ENST00000361170.6:c.4283A>C | ENSP00000354451.2:p.His1428Pro | |
| ENST00000491900.1:c.4154A>C | ENSP00000436603.1:p.His1385Pro | |
| NM_178229.4:c.4283A>C | NP_839943.2:p.His1428Pro | |
| XM_011509195.1:c.4319A>C | XP_011507497.1:p.His1440Pro | |
| XM_011509196.1:c.4316A>C | XP_011507498.1:p.His1439Pro | |
| XM_011509197.1:c.4304A>C | XP_011507499.1:p.His1435Pro | |
| XM_011509198.1:c.4298A>C | XP_011507500.1:p.His1433Pro | |
| XM_011509199.1:c.3902A>C | XP_011507501.1:p.His1301Pro | |
| XM_011509200.1:c.2957A>C | XP_011507502.1:p.His986Pro | |
| XM_011509201.1:c.2795A>C | XP_011507503.1:p.His932Pro | |
| XR_921746.1:n.4380A>C | ||
| XM_011509198.3:c.4298A>C | XP_011507500.1:p.His1433Pro | |
| XM_011509200.2:c.2957A>C | XP_011507502.1:p.His986Pro | |
| XM_011509201.2:c.2795A>C | XP_011507503.1:p.His932Pro | |
| XM_024453273.1:c.4319A>C | XP_024309041.1:p.His1440Pro | |
| XM_024453274.1:c.4316A>C | XP_024309042.1:p.His1439Pro | |
| XM_024453275.1:c.4304A>C | XP_024309043.1:p.His1435Pro | |
| XM_024453276.1:c.3902A>C | XP_024309044.1:p.His1301Pro | |
| NM_178229.5:c.4283A>C MANE Select | NP_839943.3:p.His1428Pro |