Linked Data
ClinVar Variation Id:
188078
ClinVar RCV Id:
RCV000167906
RCV000409785
RCV000410975
RCV000994377
RCV001107611
RCV001107613
RCV001107612
RCV001107614
RCV002381533
dbSNP Id:
rs758298916
ExAC:
10:43601928 G / C
gnomAD v2:
10-43601928-G-C
gnomAD v4:
10-43106480-G-C
PubMed:
PMID:11955539
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43106480G>C , CM000672.2:g.43106480G>C | GRCh38 |
| NC_000010.10:g.43601928G>C , CM000672.1:g.43601928G>C | GRCh37 |
| NC_000010.9:g.42921934G>C | NCBI36 |
| NG_007489.1:g.34412G>C , LRG_518:g.34412G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.867+1287G>C | ENSP00000480088.2:n.867+1287G>C | |
| ENST00000683007.1:n.546G>C | ||
| ENST00000340058.6:c.972G>C | ENSP00000344798.4:p.Trp324Cys | |
| ENST00000355710.8:c.972G>C MANE Select | ENSP00000347942.3:p.Trp324Cys | |
| ENST00000671844.1:c.625+3851G>C | ENSP00000500541.1:n.625+3851G>C | |
| ENST00000672389.1:c.74-4727G>C | ENSP00000500252.1:n.74-4727G>C | |
| ENST00000340058.5:c.972G>C | ENSP00000344798.4:p.Trp324Cys | |
| ENST00000355710.7:c.972G>C | ENSP00000347942.3:p.Trp324Cys | |
| ENST00000479913.1:n.567G>C | ||
| ENST00000498820.5:c.74-5619G>C | ENSP00000419080.1:n.74-5619G>C | |
| ENST00000615310.4:c.972G>C | ENSP00000480088.1:p.Trp324Cys | |
| NM_020630.4:c.972G>C , LRG_518t2:c.972G>C | NP_065681.1:p.Trp324Cys | |
| NM_020975.4:c.972G>C , LRG_518t1:c.972G>C | NP_066124.1:p.Trp324Cys | |
| XM_011540027.1:c.972G>C | XP_011538329.1:p.Trp324Cys | |
| NM_001355216.1:c.210G>C | NP_001342145.1:p.Trp70Cys | |
| NM_020630.5:c.972G>C | NP_065681.1:p.Trp324Cys | |
| NM_020975.5:c.972G>C | NP_066124.1:p.Trp324Cys | |
| NM_020975.6:c.972G>C MANE Select | NP_066124.1:p.Trp324Cys | |
| NM_020630.6:c.972G>C | NP_065681.1:p.Trp324Cys |