Linked Data
ClinVar Variation Id:
364741
ClinVar RCV Id:
RCV000382379
dbSNP Id:
rs181859642
gnomAD v2:
9-123151250-C-T
gnomAD v3:
9-120388972-C-T
gnomAD v4:
9-120388972-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120388972C>T , CM000671.2:g.120388972C>T | GRCh38 |
| NC_000009.11:g.123151250C>T , CM000671.1:g.123151250C>T | GRCh37 |
| NC_000009.10:g.122191071C>T | NCBI36 |
| NG_008999.1:g.196188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479584.2:n.4193G>A | ||
| ENST00000484546.2:n.3370G>A | ||
| ENST00000684780.1:n.6236G>A | ||
| ENST00000686376.1:c.5789G>A | ENSP00000510021.1:n.5789G>A | |
| ENST00000686842.1:n.9500G>A | ||
| ENST00000687279.1:c.*264G>A | ENSP00000508692.1:n.*264G>A | |
| ENST00000687311.1:n.5909G>A | ||
| ENST00000687633.1:c.5847G>A | ENSP00000510289.1:n.5847G>A | |
| ENST00000688512.1:c.*264G>A | ENSP00000508546.1:n.*264G>A | |
| ENST00000688923.1:n.5081G>A | ||
| ENST00000689012.1:n.2334G>A | ||
| ENST00000690646.1:c.5772G>A | ENSP00000510383.1:n.5772G>A | |
| ENST00000690814.1:c.*3122G>A | ENSP00000508792.1:n.*3122G>A | |
| ENST00000691551.1:c.2115G>A | ||
| ENST00000692155.1:c.5789G>A | ENSP00000510290.1:n.5789G>A | |
| ENST00000692746.1:n.5616G>A | ||
| ENST00000693386.1:c.5791G>A | ENSP00000510003.1:n.5791G>A | |
| ENST00000693433.1:n.9702G>A | ||
| ENST00000693714.1:n.10612G>A | ||
| ENST00000349780.9:c.*264G>A MANE Select | ENSP00000343818.4:n.*264G>A | |
| ENST00000349780.8:c.*264G>A | ENSP00000343818.4:n.*264G>A | |
| ENST00000360190.8:c.*264G>A | ENSP00000353317.4:n.*264G>A | |
| ENST00000360822.7:c.*264G>A | ENSP00000354065.4:n.*264G>A | |
| NM_001011649.2:c.*264G>A | NP_001011649.1:n.*264G>A | |
| NM_001272039.1:c.*264G>A | NP_001258968.1:n.*264G>A | |
| NM_018249.5:c.*264G>A | NP_060719.4:n.*264G>A | |
| NR_073554.1:n.6213G>A | ||
| NR_073555.1:n.6136G>A | ||
| NR_073556.1:n.6345G>A | ||
| NR_073557.1:n.6218G>A | ||
| NR_073558.1:n.6215G>A | ||
| XM_006717182.1:c.*264G>A | XP_006717245.1:n.*264G>A | |
| XM_006717185.1:c.*264G>A | XP_006717248.1:n.*264G>A | |
| XM_011518860.1:c.*264G>A | XP_011517162.1:n.*264G>A | |
| XM_011518861.1:c.*264G>A | XP_011517163.1:n.*264G>A | |
| XM_017014921.1:c.*264G>A | XP_016870410.1:n.*264G>A | |
| XM_017014922.1:c.*264G>A | XP_016870411.1:n.*264G>A | |
| XM_017014923.1:c.*264G>A | XP_016870412.1:n.*264G>A | |
| XM_017014924.1:c.*264G>A | XP_016870413.1:n.*264G>A | |
| NM_018249.6:c.*264G>A MANE Select | NP_060719.4:n.*264G>A | |
| NM_001011649.3:c.*264G>A | NP_001011649.1:n.*264G>A | |
| NR_073554.2:n.6210G>A | ||
| NR_073555.2:n.6133G>A | ||
| NR_073556.2:n.6342G>A | ||
| NR_073557.2:n.6215G>A | ||
| NR_073558.2:n.6212G>A | ||
| NM_001272039.2:c.*264G>A | NP_001258968.1:n.*264G>A |