Linked Data
ClinVar Variation Id:
6303
dbSNP Id:
rs121908657
gnomAD v4:
18-62354492-C-T
PubMed:
PMID:18606301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62354492C>T , CM000680.2:g.62354492C>T | GRCh38 |
| NC_000018.9:g.60021725C>T , CM000680.1:g.60021725C>T | GRCh37 |
| NC_000018.8:g.58172705C>T | NCBI36 |
| NG_008098.1:g.34178C>T , LRG_194:g.34178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586569.3:c.385C>T MANE Select | ENSP00000465500.1:p.Arg129Cys | |
| ENST00000639222.1:c.385C>T | ENSP00000492422.1:p.Arg129Cys | |
| ENST00000269485.11:c.385C>T | ENSP00000269485.7:p.Arg129Cys | |
| ENST00000586569.2:c.385C>T | ENSP00000465500.1:p.Arg129Cys | |
| ENST00000616710.4:c.385C>T | ENSP00000479567.1:p.Arg129Cys | |
| ENST00000617039.4:c.385C>T | ENSP00000482466.1:p.Arg129Cys | |
| NM_001270949.1:c.385C>T | NP_001257878.1:p.Arg129Cys | |
| NM_001270950.1:c.385C>T | NP_001257879.1:p.Arg129Cys | |
| NM_001270951.1:c.385C>T | NP_001257880.1:p.Arg129Cys | |
| NM_001278268.1:c.385C>T | NP_001265197.1:p.Arg129Cys | |
| NM_003839.3:c.385C>T | NP_003830.1:p.Arg129Cys | |
| XM_011526244.1:c.385C>T | XP_011524546.1:p.Arg129Cys | |
| XM_011526245.1:c.267C>T | XP_011524547.1:p.Ala89= | |
| XR_935263.1:n.400C>T | ||
| XM_011526244.2:c.385C>T | XP_011524546.1:p.Arg129Cys | |
| XM_011526245.2:c.267C>T | XP_011524547.1:p.Ala89= | |
| XM_017026064.1:c.267C>T | XP_016881553.1:p.Ala89= | |
| XM_017026065.1:c.220C>T | XP_016881554.1:p.Arg74Cys | |
| XM_017026066.1:c.165C>T | XP_016881555.1:p.Ala55= | |
| NM_003839.4:c.385C>T MANE Select | NP_003830.1:p.Arg129Cys | |
| NM_001270951.2:c.385C>T | NP_001257880.1:p.Arg129Cys | |
| NM_001278268.2:c.385C>T | NP_001265197.1:p.Arg129Cys | |
| NM_001270949.2:c.385C>T | NP_001257878.1:p.Arg129Cys | |
| NM_001270950.2:c.385C>T | NP_001257879.1:p.Arg129Cys |