Linked Data
ClinVar Variation Id:
290709
dbSNP Id:
rs747684069
ExAC:
17:48246525 C / T
gnomAD v2:
17-48246525-C-T
gnomAD v3:
17-50169164-C-T
gnomAD v4:
17-50169164-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50169164C>T , CM000679.2:g.50169164C>T | GRCh38 |
| NC_000017.10:g.48246525C>T , CM000679.1:g.48246525C>T | GRCh37 |
| NC_000017.9:g.45601524C>T | NCBI36 |
| NG_008889.1:g.8160C>T , LRG_203:g.8160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.597+60C>T | ENSP00000422030.2:n.597+60C>T | |
| ENST00000511303.6:n.309+592C>T | ||
| ENST00000512526.2:c.575+592C>T | ENSP00000426606.2:n.575+592C>T | |
| ENST00000682109.1:c.537C>T | ENSP00000508041.1:p.His179= | |
| ENST00000683226.1:n.367C>T | ||
| ENST00000683294.1:c.657C>T | ENSP00000508134.1:p.His219= | |
| ENST00000262018.8:c.657C>T MANE Select | ENSP00000262018.3:p.His219= | |
| ENST00000262018.7:c.657C>T | ENSP00000262018.3:p.His219= | |
| ENST00000344627.10:c.584+592C>T | ENSP00000345522.6:n.584+592C>T | |
| ENST00000502555.5:c.*316C>T | ENSP00000422817.1:n.*316C>T | |
| ENST00000504073.1:c.64+60C>T | ||
| ENST00000511303.5:c.305+592C>T | ENSP00000426104.1:n.305+592C>T | |
| ENST00000512526.1:c.419+592C>T | ||
| ENST00000513821.5:c.657C>T | ENSP00000426571.1:p.His219= | |
| ENST00000513942.5:n.375+592C>T | ||
| NM_000023.2:c.657C>T , LRG_203t1:c.657C>T | NP_000014.1:p.His219= | |
| NM_001135697.1:c.584+592C>T | NP_001129169.1:n.584+592C>T | |
| XM_011525120.1:c.657C>T | XP_011523422.1:p.His219= | |
| XM_011525121.1:c.597+60C>T | XP_011523423.1:n.597+60C>T | |
| XM_011525122.1:c.657C>T | XP_011523424.1:p.His219= | |
| XM_011525123.1:c.584+592C>T | XP_011523425.1:n.584+592C>T | |
| XM_011525124.1:c.351C>T | XP_011523426.1:p.His117= | |
| XR_934517.1:n.723C>T | ||
| NM_000023.3:c.657C>T | NP_000014.1:p.His219= | |
| NM_001135697.2:c.584+592C>T | NP_001129169.1:n.584+592C>T | |
| NR_135553.1:n.713C>T | ||
| XM_011525120.2:c.819C>T | XP_011523422.2:p.His273= | |
| XM_011525121.2:c.759+60C>T | XP_011523423.2:n.759+60C>T | |
| XM_011525122.2:c.819C>T | XP_011523424.2:p.His273= | |
| XM_011525123.2:c.746+592C>T | XP_011523425.2:n.746+592C>T | |
| XM_011525124.2:c.351C>T | XP_011523426.1:p.His117= | |
| XM_024450873.1:c.351C>T | XP_024306641.1:p.His117= | |
| XR_002958056.1:n.1175C>T | ||
| NM_000023.4:c.657C>T MANE Select | NP_000014.1:p.His219= | |
| NM_001135697.3:c.584+592C>T | NP_001129169.1:n.584+592C>T | |
| NR_135553.2:n.693C>T |