Linked Data
dbSNP Id:
rs752036415
ExAC:
17:18049225 C / T
gnomAD v2:
17-18049225-C-T
gnomAD v3:
17-18145911-C-T
gnomAD v4:
17-18145911-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18145911C>T , CM000679.2:g.18145911C>T | GRCh38 |
| NC_000017.10:g.18049225C>T , CM000679.1:g.18049225C>T | GRCh37 |
| NC_000017.9:g.17989950C>T | NCBI36 |
| NG_011634.1:g.42206C>T | |
| NG_011634.2:g.42206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6313C>T MANE Select | ENSP00000495481.1:p.Arg2105Trp | |
| ENST00000205890.9:c.6313C>T | ENSP00000205890.5:p.Arg2105Trp | |
| ENST00000615845.4:c.6313C>T | ENSP00000481642.1:p.Arg2105Trp | |
| NM_016239.3:c.6313C>T | NP_057323.3:p.Arg2105Trp | |
| XM_011523917.1:c.6253C>T | XP_011522219.1:p.Arg2085Trp | |
| XM_011523918.1:c.6253C>T | XP_011522220.1:p.Arg2085Trp | |
| XM_011523921.1:c.6307C>T | XP_011522223.1:p.Arg2103Trp | |
| XR_934037.1:n.6912C>T | ||
| XR_934038.1:n.6912C>T | ||
| XM_011523918.2:c.6253C>T | XP_011522220.1:p.Arg2085Trp | |
| XM_017024714.2:c.6253C>T | XP_016880203.1:p.Arg2085Trp | |
| XM_017024715.2:c.6316C>T | XP_016880204.1:p.Arg2106Trp | |
| XM_024450781.1:c.6213+1319C>T | XP_024306549.1:n.6213+1319C>T | |
| NM_016239.4:c.6313C>T MANE Select | NP_057323.3:p.Arg2105Trp |