Linked Data
ClinVar Variation Id:
3142
ClinVar RCV Id:
RCV000003292
RCV000003291
RCV000057628
RCV000182219
RCV000762837
RCV001824559
RCV001851606
RCV003591618
RCV004018545
dbSNP Id:
rs17221854
ExAC:
11:2799220 C / T
gnomAD v2:
11-2799220-C-T
gnomAD v4:
11-2777990-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2777990C>T , CM000673.2:g.2777990C>T | GRCh38 |
| NC_000011.9:g.2799220C>T , CM000673.1:g.2799220C>T | GRCh37 |
| NC_000011.8:g.2755796C>T | NCBI36 |
| NG_008935.1:g.338000C>T , LRG_287:g.338000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1390C>T | ENSP00000434560.2:p.Arg464Cys | |
| ENST00000646564.2:c.1207C>T | ENSP00000495806.2:p.Arg403Cys | |
| ENST00000155840.12:c.1747C>T MANE Select | ENSP00000155840.2:p.Arg583Cys | |
| ENST00000335475.6:c.1366C>T | ENSP00000334497.5:p.Arg456Cys | |
| ENST00000526095.2:c.151C>T | ENSP00000494939.1:p.Arg51Cys | |
| ENST00000646564.1:c.853C>T | ENSP00000495806.1:p.Arg285Cys | |
| ENST00000155840.9:c.1747C>T | ENSP00000155840.2:p.Arg583Cys | |
| ENST00000335475.5:c.1366C>T | ENSP00000334497.5:p.Arg456Cys | |
| ENST00000526095.1:n.254C>T | ||
| NM_000218.2:c.1747C>T , LRG_287t1:c.1747C>T | NP_000209.2:p.Arg583Cys | |
| NM_181798.1:c.1366C>T , LRG_287t2:c.1366C>T | NP_861463.1:p.Arg456Cys | |
| NM_000218.3:c.1747C>T MANE Select | NP_000209.2:p.Arg583Cys |