Linked Data
ClinVar Variation Id:
1180762
dbSNP Id:
rs375805896
ExAC:
17:18049348 C / T
gnomAD v2:
17-18049348-C-T
gnomAD v3:
17-18146034-C-T
gnomAD v4:
17-18146034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18146034C>T , CM000679.2:g.18146034C>T | GRCh38 |
| NC_000017.10:g.18049348C>T , CM000679.1:g.18049348C>T | GRCh37 |
| NC_000017.9:g.17990073C>T | NCBI36 |
| NG_011634.1:g.42329C>T | |
| NG_011634.2:g.42329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6436C>T MANE Select | ENSP00000495481.1:p.Arg2146Trp | |
| ENST00000205890.9:c.6436C>T | ENSP00000205890.5:p.Arg2146Trp | |
| ENST00000578999.1:n.21C>T | ||
| ENST00000615845.4:c.6436C>T | ENSP00000481642.1:p.Arg2146Trp | |
| NM_016239.3:c.6436C>T | NP_057323.3:p.Arg2146Trp | |
| XM_011523917.1:c.6376C>T | XP_011522219.1:p.Arg2126Trp | |
| XM_011523918.1:c.6342+34C>T | XP_011522220.1:n.6342+34C>T | |
| XM_011523921.1:c.6430C>T | XP_011522223.1:p.Arg2144Trp | |
| XR_934037.1:n.7035C>T | ||
| XR_934038.1:n.7035C>T | ||
| XM_011523918.2:c.6342+34C>T | XP_011522220.1:n.6342+34C>T | |
| XM_017024714.2:c.6376C>T | XP_016880203.1:p.Arg2126Trp | |
| XM_017024715.2:c.6439C>T | XP_016880204.1:p.Arg2147Trp | |
| XM_024450781.1:c.6213+1442C>T | XP_024306549.1:n.6213+1442C>T | |
| NM_016239.4:c.6436C>T MANE Select | NP_057323.3:p.Arg2146Trp |