Linked Data
ClinVar Variation Id:
318980
ClinVar RCV Id:
RCV000341470
dbSNP Id:
rs759668256
ExAC:
16:31191483 C / T
gnomAD v2:
16-31191483-C-T
gnomAD v3:
16-31180162-C-T
gnomAD v4:
16-31180162-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31180162C>T , CM000678.2:g.31180162C>T | GRCh38 |
| NC_000016.9:g.31191483C>T , CM000678.1:g.31191483C>T | GRCh37 |
| NC_000016.8:g.31098984C>T | NCBI36 |
| NG_012889.2:g.5031C>T , LRG_655:g.5031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.-53C>T MANE Select | ENSP00000254108.8:n.-53C>T | |
| ENST00000254108.11:c.-53C>T | ENSP00000254108.7:n.-53C>T | |
| ENST00000380244.7:c.-53C>T | ENSP00000369594.3:n.-53C>T | |
| ENST00000487045.6:n.24C>T | ||
| ENST00000487509.6:n.13C>T | ||
| ENST00000566605.5:c.-53C>T | ENSP00000455073.1:n.-53C>T | |
| ENST00000568685.1:c.-53C>T | ENSP00000455282.1:n.-53C>T | |
| NM_001170634.1:c.-53C>T | NP_001164105.1:n.-53C>T | |
| NM_001170937.1:c.-53C>T | NP_001164408.1:n.-53C>T | |
| NM_004960.3:c.-53C>T , LRG_655t1:c.-53C>T | NP_004951.1:n.-53C>T | |
| NR_028388.2:n.53C>T | ||
| XM_005255233.3:c.-630C>T | XP_005255290.1:n.-630C>T | |
| XM_011545781.1:c.-53C>T | XP_011544083.1:n.-53C>T | |
| XM_005255233.5:c.-630C>T | XP_005255290.1:n.-630C>T | |
| XM_024450221.1:c.-53C>T | XP_024305989.1:n.-53C>T | |
| NM_004960.4:c.-53C>T MANE Select | NP_004951.1:n.-53C>T |