Linked Data
ClinVar Variation Id:
6302
ClinVar RCV Id:
RCV000006682
dbSNP Id:
rs121908656
gnomAD v2:
18-60027189-T-C
gnomAD v4:
18-62359956-T-C
PubMed:
PMID:18606301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62359956T>C , CM000680.2:g.62359956T>C | GRCh38 |
| NC_000018.9:g.60027189T>C , CM000680.1:g.60027189T>C | GRCh37 |
| NC_000018.8:g.58178169T>C | NCBI36 |
| NG_008098.1:g.39642T>C , LRG_194:g.39642T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000586569.3:c.523T>C MANE Select | ENSP00000465500.1:p.Cys175Arg | |
| ENST00000639222.1:c.523T>C | ENSP00000492422.1:p.Cys175Arg | |
| ENST00000269485.11:c.523T>C | ENSP00000269485.7:p.Cys175Arg | |
| ENST00000586569.2:c.523T>C | ENSP00000465500.1:p.Cys175Arg | |
| ENST00000587697.1:n.441T>C | ||
| ENST00000616710.4:c.523T>C | ENSP00000479567.1:p.Cys175Arg | |
| ENST00000617039.4:c.523T>C | ENSP00000482466.1:p.Cys175Arg | |
| NM_001270949.1:c.523T>C | NP_001257878.1:p.Cys175Arg | |
| NM_001270950.1:c.523T>C | NP_001257879.1:p.Cys175Arg | |
| NM_001270951.1:c.523T>C | NP_001257880.1:p.Cys175Arg | |
| NM_001278268.1:c.481T>C | NP_001265197.1:p.Cys161Arg | |
| NM_003839.3:c.523T>C | NP_003830.1:p.Cys175Arg | |
| XM_011526244.1:c.538T>C | XP_011524546.1:p.Cys180Arg | |
| XM_011526245.1:c.415T>C | XP_011524547.1:p.Cys139Arg | |
| XR_935263.1:n.553T>C | ||
| XM_011526244.2:c.538T>C | XP_011524546.1:p.Cys180Arg | |
| XM_011526245.2:c.415T>C | XP_011524547.1:p.Cys139Arg | |
| XM_017026064.1:c.415T>C | XP_016881553.1:p.Cys139Arg | |
| XM_017026065.1:c.373T>C | XP_016881554.1:p.Cys125Arg | |
| XM_017026066.1:c.313T>C | XP_016881555.1:p.Cys105Arg | |
| NM_003839.4:c.523T>C MANE Select | NP_003830.1:p.Cys175Arg | |
| NM_001270951.2:c.523T>C | NP_001257880.1:p.Cys175Arg | |
| NM_001278268.2:c.481T>C | NP_001265197.1:p.Cys161Arg | |
| NM_001270949.2:c.523T>C | NP_001257878.1:p.Cys175Arg | |
| NM_001270950.2:c.523T>C | NP_001257879.1:p.Cys175Arg |