Linked Data
ClinVar Variation Id:
211978
dbSNP Id:
rs150478342
ExAC:
2:135887597 C / T
gnomAD v2:
2-135887597-C-T
gnomAD v3:
2-135130027-C-T
gnomAD v4:
2-135130027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135130027C>T , CM000664.2:g.135130027C>T | GRCh38 |
| NC_000002.11:g.135887597C>T , CM000664.1:g.135887597C>T | GRCh37 |
| NC_000002.10:g.135604067C>T | NCBI36 |
| NG_016972.1:g.82763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.1006C>T | ENSP00000444306.2:p.Arg336Cys | |
| ENST00000685967.1:c.*463C>T | ENSP00000508423.1:n.*463C>T | |
| ENST00000686114.1:n.1352C>T | ||
| ENST00000687199.1:c.*1074C>T | ENSP00000510319.1:n.*1074C>T | |
| ENST00000688088.1:n.1025C>T | ||
| ENST00000688182.1:c.151-37666C>T | ENSP00000509324.1:n.151-37666C>T | |
| ENST00000689880.1:n.1025C>T | ||
| ENST00000690208.1:c.*684C>T | ENSP00000510746.1:n.*684C>T | |
| ENST00000690785.1:n.1025C>T | ||
| ENST00000691339.1:c.*629C>T | ENSP00000509953.1:n.*629C>T | |
| ENST00000691478.1:c.*1105C>T | ENSP00000509081.1:n.*1105C>T | |
| ENST00000693554.1:c.1006C>T | ENSP00000509030.1:p.Arg336Cys | |
| ENST00000264158.13:c.1006C>T MANE Select | ENSP00000264158.8:p.Arg336Cys | |
| ENST00000264158.12:c.1006C>T | ENSP00000264158.7:p.Arg336Cys | |
| ENST00000442034.5:c.1006C>T | ENSP00000411418.1:p.Arg336Cys | |
| ENST00000487003.5:n.1075C>T | ||
| ENST00000489858.1:n.343C>T | ||
| ENST00000539493.2:c.874C>T | ENSP00000444306.1:p.Arg292Cys | |
| NM_001172435.1:c.1006C>T | NP_001165906.1:p.Arg336Cys | |
| NM_012233.2:c.1006C>T | NP_036365.1:p.Arg336Cys | |
| XM_011510822.1:c.1006C>T | XP_011509124.1:p.Arg336Cys | |
| XM_011510823.1:c.1006C>T | XP_011509125.1:p.Arg336Cys | |
| XM_011510824.1:c.1006C>T | XP_011509126.1:p.Arg336Cys | |
| XM_011510825.1:c.1006C>T | XP_011509127.1:p.Arg336Cys | |
| XM_011510823.3:c.1006C>T | XP_011509125.1:p.Arg336Cys | |
| XM_011510825.3:c.1006C>T | XP_011509127.1:p.Arg336Cys | |
| XR_001738674.2:n.1033C>T | ||
| NM_001172435.2:c.1006C>T | NP_001165906.1:p.Arg336Cys | |
| NM_012233.3:c.1006C>T MANE Select | NP_036365.1:p.Arg336Cys |