Linked Data
ClinVar Variation Id:
30870
dbSNP Id:
rs387907039
gnomAD v2:
16-74752969-G-A
gnomAD v3:
16-74719071-G-A
gnomAD v4:
16-74719071-G-A
COSMIC:
COSM4820625
PubMed:
PMID:20104589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74719071G>A , CM000678.2:g.74719071G>A | GRCh38 |
| NC_000016.9:g.74752969G>A , CM000678.1:g.74752969G>A | GRCh37 |
| NC_000016.8:g.73310470G>A | NCBI36 |
| NG_017070.1:g.60761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.703C>T MANE Select | ENSP00000219368.3:p.Arg235Cys | |
| ENST00000219368.7:c.703C>T | ENSP00000219368.3:p.Arg235Cys | |
| ENST00000567683.5:c.453C>T | ENSP00000455126.1:p.Thr151= | |
| ENST00000569949.1:c.505C>T | ENSP00000464576.1:p.Arg169Cys | |
| NM_024306.4:c.703C>T | NP_077282.3:p.Arg235Cys | |
| XM_011523317.1:c.703C>T | XP_011521619.1:p.Arg235Cys | |
| XM_011523318.1:c.703C>T | XP_011521620.1:p.Arg235Cys | |
| XM_011523319.1:c.463C>T | XP_011521621.1:p.Arg155Cys | |
| XM_011523317.3:c.703C>T | XP_011521619.1:p.Arg235Cys | |
| XM_011523319.2:c.463C>T | XP_011521621.1:p.Arg155Cys | |
| NM_024306.5:c.703C>T MANE Select | NP_077282.3:p.Arg235Cys |