Linked Data
ClinVar Variation Id:
518488
dbSNP Id:
rs367711718
ExAC:
22:19754255 T / C
gnomAD v2:
22-19754255-T-C
gnomAD v3:
22-19766732-T-C
gnomAD v4:
22-19766732-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19766732T>C , CM000684.2:g.19766732T>C | GRCh38 |
| NC_000022.10:g.19754255T>C , CM000684.1:g.19754255T>C | GRCh37 |
| NC_000022.9:g.18134255T>C | NCBI36 |
| NG_009229.1:g.15030T>C , LRG_226:g.15030T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649276.2:c.1380T>C MANE Select | ENSP00000497003.1:p.His460= | |
| ENST00000329705.11:c.1009+730T>C | ENSP00000331176.7:n.1009+730T>C | |
| ENST00000332710.8:c.1353T>C | ENSP00000331791.4:p.His451= | |
| ENST00000359500.7:c.1009+730T>C | ENSP00000352483.3:n.1009+730T>C | |
| ENST00000621939.1:c.1009+730T>C | ENSP00000477982.1:n.1009+730T>C | |
| NM_005992.1:c.1009+730T>C | NP_005983.1:n.1009+730T>C | |
| NM_080646.1:c.1009+730T>C | NP_542377.1:n.1009+730T>C | |
| NM_080647.1:c.1353T>C , LRG_226t1:c.1353T>C | NP_542378.1:p.His451= | |
| XM_006724312.1:c.1353T>C | XP_006724375.1:p.His451= | |
| XM_011530351.1:c.1380T>C | XP_011528653.1:p.His460= | |
| XM_006724312.2:c.1353T>C | XP_006724375.1:p.His451= | |
| XM_017028925.1:c.1503T>C | XP_016884414.1:p.His501= | |
| XM_017028926.1:c.1353T>C | XP_016884415.1:p.His451= | |
| XM_017028927.1:c.708T>C | XP_016884416.1:p.His236= | |
| XM_017028928.1:c.1159+730T>C | XP_016884417.1:n.1159+730T>C | |
| NM_001379200.1:c.1380T>C MANE Select | NP_001366129.1:p.His460= | |
| NM_080646.2:c.1009+730T>C | NP_542377.1:n.1009+730T>C |