Linked Data
ClinVar Variation Id:
195313
dbSNP Id:
rs200532919
ExAC:
17:18023568 T / C
gnomAD v2:
17-18023568-T-C
gnomAD v3:
17-18120254-T-C
gnomAD v4:
17-18120254-T-C
PubMed:
PMID:26445815
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18120254T>C , CM000679.2:g.18120254T>C | GRCh38 |
| NC_000017.10:g.18023568T>C , CM000679.1:g.18023568T>C | GRCh37 |
| NC_000017.9:g.17964293T>C | NCBI36 |
| NG_011634.1:g.16549T>C | |
| NG_011634.2:g.16549T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.1454T>C MANE Select | ENSP00000495481.1:p.Val485Ala | |
| ENST00000205890.9:c.1454T>C | ENSP00000205890.5:p.Val485Ala | |
| ENST00000583079.1:n.1087T>C | ||
| ENST00000615845.4:c.1454T>C | ENSP00000481642.1:p.Val485Ala | |
| NM_016239.3:c.1454T>C | NP_057323.3:p.Val485Ala | |
| XM_011523917.1:c.1454T>C | XP_011522219.1:p.Val485Ala | |
| XM_011523918.1:c.1454T>C | XP_011522220.1:p.Val485Ala | |
| XM_011523919.1:c.1454T>C | XP_011522221.1:p.Val485Ala | |
| XM_011523920.1:c.1454T>C | XP_011522222.1:p.Val485Ala | |
| XM_011523921.1:c.1454T>C | XP_011522223.1:p.Val485Ala | |
| XR_934037.1:n.2113T>C | ||
| XR_934038.1:n.2113T>C | ||
| XR_934039.1:n.2113T>C | ||
| XM_011523918.2:c.1454T>C | XP_011522220.1:p.Val485Ala | |
| XM_017024714.2:c.1454T>C | XP_016880203.1:p.Val485Ala | |
| XM_017024715.2:c.1454T>C | XP_016880204.1:p.Val485Ala | |
| XM_024450780.1:c.1454T>C | XP_024306548.1:p.Val485Ala | |
| XM_024450781.1:c.1454T>C | XP_024306549.1:p.Val485Ala | |
| XM_024450782.1:c.1454T>C | XP_024306550.1:p.Val485Ala | |
| XR_934039.2:n.2152T>C | ||
| NM_016239.4:c.1454T>C MANE Select | NP_057323.3:p.Val485Ala |