Linked Data
ClinVar Variation Id:
182984
dbSNP Id:
rs370050374
ExAC:
3:10191579 A / C
gnomAD v2:
3-10191579-A-C
gnomAD v4:
3-10149895-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149895A>C , CM000665.2:g.10149895A>C | GRCh38 |
| NC_000003.11:g.10191579A>C , CM000665.1:g.10191579A>C | GRCh37 |
| NC_000003.10:g.10166579A>C | NCBI36 |
| NG_008212.3:g.13261A>C , LRG_322:g.13261A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*249A>C | ENSP00000512434.1:n.*249A>C | |
| ENST00000696143.1:c.708A>C | ENSP00000512435.1:n.708A>C | |
| ENST00000696153.1:c.683A>C | ENSP00000512444.1:p.His228Pro | |
| ENST00000256474.3:c.572A>C MANE Select | ENSP00000256474.3:p.His191Pro | |
| ENST00000256474.2:c.572A>C | ENSP00000256474.2:p.His191Pro | |
| ENST00000345392.2:c.449A>C | ENSP00000344757.2:p.His150Pro | |
| ENST00000477538.1:n.708A>C | ||
| NM_000551.3:c.572A>C , LRG_322t1:c.572A>C | NP_000542.1:p.His191Pro | |
| NM_198156.2:c.449A>C | NP_937799.1:p.His150Pro | |
| NM_001354723.1:c.*126A>C | NP_001341652.1:n.*126A>C | |
| NM_000551.4:c.572A>C MANE Select | NP_000542.1:p.His191Pro | |
| NM_001354723.2:c.*126A>C | NP_001341652.1:n.*126A>C | |
| NM_198156.3:c.449A>C | NP_937799.1:p.His150Pro |