Linked Data
ClinVar Variation Id:
800823
ClinVar RCV Id:
RCV000985000
dbSNP Id:
rs1333091798
gnomAD v2:
15-67073406-C-T
gnomAD v3:
15-66781068-C-T
gnomAD v4:
15-66781068-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781068C>T , CM000677.2:g.66781068C>T | GRCh38 |
| NC_000015.9:g.67073406C>T , CM000677.1:g.67073406C>T | GRCh37 |
| NC_000015.8:g.64860460C>T | NCBI36 |
| NG_012244.1:g.83733C>T | |
| NG_012244.2:g.83733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1024C>T MANE Select | ENSP00000288840.5:p.Arg342Cys | |
| ENST00000288840.9:c.1024C>T | ENSP00000288840.5:p.Arg342Cys | |
| ENST00000557916.5:c.1156C>T | ENSP00000452955.1:n.1156C>T | |
| ENST00000559931.5:c.328C>T | ENSP00000453446.1:n.328C>T | |
| NM_005585.4:c.1024C>T | NP_005576.3:p.Arg342Cys | |
| NR_027654.1:n.2079C>T | ||
| XM_011521561.1:c.241C>T | XP_011519863.1:p.Arg81Cys | |
| XR_931825.1:n.2423C>T | ||
| XM_011521561.2:c.241C>T | XP_011519863.1:p.Arg81Cys | |
| NM_005585.5:c.1024C>T MANE Select | NP_005576.3:p.Arg342Cys | |
| NR_027654.2:n.2179C>T |