Linked Data
dbSNP Id:
rs1064524
ExAC:
16:30492823 C / T
gnomAD v2:
16-30492823-C-T
gnomAD v3:
16-30481502-C-T
gnomAD v4:
16-30481502-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30481502C>T , CM000678.2:g.30481502C>T | GRCh38 |
| NC_000016.9:g.30492823C>T , CM000678.1:g.30492823C>T | GRCh37 |
| NC_000016.8:g.30400324C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356798.11:c.640C>T MANE Select | ENSP00000349252.5:p.Arg214Trp | |
| ENST00000676652.1:c.314C>T | ||
| ENST00000677830.1:c.391C>T | ENSP00000503623.1:p.Arg131Trp | |
| ENST00000678203.1:c.*384C>T | ENSP00000504379.1:n.*384C>T | |
| ENST00000356798.10:c.640C>T | ENSP00000349252.5:p.Arg214Trp | |
| ENST00000358164.9:c.391C>T | ENSP00000350886.5:p.Arg131Trp | |
| ENST00000433423.2:c.153+7215C>T | ENSP00000409377.2:n.153+7215C>T | |
| ENST00000562857.5:c.*20C>T | ENSP00000454342.1:n.*20C>T | |
| ENST00000564118.1:c.391C>T | ENSP00000456888.1:p.Arg131Trp | |
| ENST00000565348.5:n.420-2325C>T | ||
| ENST00000568926.5:c.153+7215C>T | ENSP00000457785.1:n.153+7215C>T | |
| NM_001114380.1:c.391C>T | NP_001107852.1:p.Arg131Trp | |
| NM_002209.2:c.640C>T | NP_002200.2:p.Arg214Trp | |
| XM_005255313.1:c.640C>T | XP_005255370.1:p.Arg214Trp | |
| XM_006721044.1:c.391C>T | XP_006721107.1:p.Arg131Trp | |
| XM_011545849.1:c.352C>T | XP_011544151.1:p.Arg118Trp | |
| XR_950794.1:n.736C>T | ||
| XM_024450262.1:c.352C>T | XP_024306030.1:p.Arg118Trp | |
| NM_001114380.2:c.391C>T | NP_001107852.1:p.Arg131Trp | |
| NM_002209.3:c.640C>T MANE Select | NP_002200.2:p.Arg214Trp |