Linked Data
ClinVar Variation Id:
319488
dbSNP Id:
rs373812846
gnomAD v2:
16-50766603-C-T
gnomAD v3:
16-50732692-C-T
gnomAD v4:
16-50732692-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50732692C>T , CM000678.2:g.50732692C>T | GRCh38 |
| NC_000016.9:g.50766603C>T , CM000678.1:g.50766603C>T | GRCh37 |
| NC_000016.8:g.49324104C>T | NCBI36 |
| NG_007508.1:g.40554C>T , LRG_177:g.40554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.*1029C>T | ENSP00000493088.1:n.*1029C>T | |
| ENST00000646677.2:c.*1680C>T | ENSP00000496533.1:n.*1680C>T | |
| ENST00000697428.1:n.3393C>T | ||
| ENST00000641284.1:c.*1029C>T | ENSP00000493088.1:n.*1029C>T | |
| ENST00000646677.1:c.*1680C>T | ENSP00000496533.1:n.*1680C>T | |
| ENST00000647318.2:c.*873C>T MANE Select | ENSP00000495993.1:n.*873C>T | |
| ENST00000300589.6:c.*873C>T | ENSP00000300589.2:n.*873C>T | |
| NM_001293557.1:c.*873C>T | NP_001280486.1:n.*873C>T | |
| NM_022162.2:c.*873C>T | NP_071445.1:n.*873C>T | |
| XM_005256084.2:c.*873C>T | XP_005256141.1:n.*873C>T | |
| XM_006721242.2:c.*873C>T | XP_006721305.1:n.*873C>T | |
| XM_011523257.1:c.*873C>T | XP_011521559.1:n.*873C>T | |
| XM_011523258.1:c.*873C>T | XP_011521560.1:n.*873C>T | |
| XM_011523259.1:c.*873C>T | XP_011521561.1:n.*873C>T | |
| XM_005256084.4:c.*873C>T | XP_005256141.1:n.*873C>T | |
| XM_006721242.4:c.*873C>T | XP_006721305.1:n.*873C>T | |
| XM_011523259.2:c.*873C>T | XP_011521561.1:n.*873C>T | |
| XM_017023535.1:c.*873C>T | XP_016879024.1:n.*873C>T | |
| XM_017023536.1:c.*873C>T | XP_016879025.1:n.*873C>T | |
| XM_017023537.1:c.*873C>T | XP_016879026.1:n.*873C>T | |
| XM_017023538.1:c.*873C>T | XP_016879027.1:n.*873C>T | |
| NM_001293557.2:c.*873C>T | NP_001280486.1:n.*873C>T | |
| NM_001370466.1:c.*873C>T MANE Select | NP_001357395.1:n.*873C>T | |
| NM_022162.3:c.*873C>T | NP_071445.1:n.*873C>T | |
| NR_163434.1:n.4127C>T |