Linked Data
ClinVar Variation Id:
727322
ClinVar RCV Id:
RCV002540209
dbSNP Id:
rs373396737
gnomAD v2:
19-47979858-G-A
gnomAD v3:
19-47476601-G-A
gnomAD v4:
19-47476601-G-A
COSMIC:
COSM1394910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47476601G>A , CM000681.2:g.47476601G>A | GRCh38 |
| NC_000019.9:g.47979858G>A , CM000681.1:g.47979858G>A | GRCh37 |
| NC_000019.8:g.52671670G>A | NCBI36 |
| NG_034097.1:g.12664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338134.8:c.1113C>T MANE Select | ENSP00000337850.2:p.His371= | |
| ENST00000338134.7:c.1113C>T | ENSP00000337850.2:p.His371= | |
| ENST00000594208.5:c.*747C>T | ENSP00000470364.1:n.*747C>T | |
| NM_001291296.1:c.945C>T | NP_001278225.1:p.His315= | |
| NM_007059.3:c.1113C>T | NP_008990.2:p.His371= | |
| NR_111923.1:n.1304C>T | ||
| XM_011526398.1:c.1299C>T | XP_011524700.1:p.His433= | |
| XM_011526399.1:c.1299C>T | XP_011524701.1:p.His433= | |
| XM_011526400.1:c.1299C>T | XP_011524702.1:p.His433= | |
| XM_011526401.1:c.1131C>T | XP_011524703.1:p.His377= | |
| XM_017026226.1:c.1365C>T | XP_016881715.1:p.His455= | |
| XM_017026227.1:c.1365C>T | XP_016881716.1:p.His455= | |
| XM_017026228.1:c.1365C>T | XP_016881717.1:p.His455= | |
| XM_024451333.1:c.1113C>T | XP_024307101.1:p.His371= | |
| XR_001753597.1:n.1567C>T | ||
| NM_007059.4:c.1113C>T MANE Select | NP_008990.2:p.His371= | |
| NM_001291296.2:c.945C>T | NP_001278225.1:p.His315= | |
| NR_111923.2:n.1259C>T |