Linked Data
ClinVar Variation Id:
216726
ClinVar RCV Id:
RCV000200291
RCV000283887
RCV000322527
RCV000374792
RCV000380664
RCV000572326
RCV000663300
RCV002470810
dbSNP Id:
rs762626209
ExAC:
10:43596167 C / T
gnomAD v2:
10-43596167-C-T
gnomAD v3:
10-43100719-C-T
gnomAD v4:
10-43100719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43100719C>T , CM000672.2:g.43100719C>T | GRCh38 |
| NC_000010.10:g.43596167C>T , CM000672.1:g.43596167C>T | GRCh37 |
| NC_000010.9:g.42916173C>T | NCBI36 |
| NG_007489.1:g.28651C>T , LRG_518:g.28651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.334C>T | ENSP00000480088.2:p.Arg112Cys | |
| ENST00000683278.1:c.236C>T | ||
| ENST00000684216.1:c.236C>T | ||
| ENST00000340058.6:c.334C>T | ENSP00000344798.4:p.Arg112Cys | |
| ENST00000355710.8:c.334C>T MANE Select | ENSP00000347942.3:p.Arg112Cys | |
| ENST00000638465.1:c.236C>T | ||
| ENST00000640619.1:c.236C>T | ||
| ENST00000671844.1:c.334C>T | ENSP00000500541.1:p.Arg112Cys | |
| ENST00000672389.1:c.74-10488C>T | ENSP00000500252.1:n.74-10488C>T | |
| ENST00000340058.5:c.334C>T | ENSP00000344798.4:p.Arg112Cys | |
| ENST00000355710.7:c.334C>T | ENSP00000347942.3:p.Arg112Cys | |
| ENST00000498820.5:c.74-11380C>T | ENSP00000419080.1:n.74-11380C>T | |
| ENST00000615310.4:c.334C>T | ENSP00000480088.1:p.Arg112Cys | |
| NM_020630.4:c.334C>T , LRG_518t2:c.334C>T | NP_065681.1:p.Arg112Cys | |
| NM_020975.4:c.334C>T , LRG_518t1:c.334C>T | NP_066124.1:p.Arg112Cys | |
| XM_011540027.1:c.334C>T | XP_011538329.1:p.Arg112Cys | |
| NM_020630.5:c.334C>T | NP_065681.1:p.Arg112Cys | |
| NM_020975.5:c.334C>T | NP_066124.1:p.Arg112Cys | |
| NM_020975.6:c.334C>T MANE Select | NP_066124.1:p.Arg112Cys | |
| NM_020630.6:c.334C>T | NP_065681.1:p.Arg112Cys |