Linked Data
ClinVar Variation Id:
3194
dbSNP Id:
rs119465999
ExAC:
16:69199289 C / T
gnomAD v2:
16-69199289-C-T
gnomAD v3:
16-69165386-C-T
gnomAD v4:
16-69165386-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69165386C>T , CM000678.2:g.69165386C>T | GRCh38 |
| NC_000016.9:g.69199289C>T , CM000678.1:g.69199289C>T | GRCh37 |
| NC_000016.8:g.67756790C>T | NCBI36 |
| NG_008278.1:g.37791C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314423.12:c.1693C>T MANE Select | ENSP00000327179.7:p.Arg565Trp | |
| ENST00000314423.11:c.1693C>T | ENSP00000327179.7:p.Arg565Trp | |
| ENST00000352319.8:c.1348C>T | ENSP00000339164.4:p.Arg450Trp | |
| ENST00000562237.5:c.1735C>T | ENSP00000456709.1:p.Arg579Trp | |
| ENST00000563094.5:c.1693C>T | ENSP00000456622.1:p.Arg565Trp | |
| ENST00000567500.1:c.519+2208C>T | ENSP00000456317.1:n.519+2208C>T | |
| NM_032830.2:c.1693C>T | NP_116219.2:p.Arg565Trp | |
| XM_005256204.1:c.1444C>T | XP_005256261.1:p.Arg482Trp | |
| XM_005256205.2:c.1276C>T | XP_005256262.2:p.Arg426Trp | |
| NM_001318391.1:c.1444C>T | NP_001305320.1:p.Arg482Trp | |
| XM_005256205.3:c.1276C>T | XP_005256262.2:p.Arg426Trp | |
| XR_001752011.2:n.1690C>T | ||
| NM_032830.3:c.1693C>T MANE Select | NP_116219.2:p.Arg565Trp | |
| NM_001318391.2:c.1444C>T | NP_001305320.1:p.Arg482Trp |