Linked Data
ClinVar Variation Id:
1317910
ClinVar RCV Id:
RCV001769917
dbSNP Id:
rs11542041
ExAC:
19:45411947 C / T
gnomAD v2:
19-45411947-C-T
gnomAD v3:
19-44908690-C-T
gnomAD v4:
19-44908690-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908690C>T , CM000681.2:g.44908690C>T | GRCh38 |
| NC_000019.9:g.45411947C>T , CM000681.1:g.45411947C>T | GRCh37 |
| NC_000019.8:g.50103787C>T | NCBI36 |
| NG_007084.2:g.7909C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.394C>T MANE Select | ENSP00000252486.3:p.Arg132Cys | |
| ENST00000252486.8:c.394C>T | ENSP00000252486.3:p.Arg132Cys | |
| ENST00000425718.1:c.394C>T | ENSP00000410423.1:p.Arg132Cys | |
| ENST00000434152.5:c.472C>T | ENSP00000413653.2:p.Arg158Cys | |
| ENST00000446996.5:c.394C>T | ENSP00000413135.1:p.Arg132Cys | |
| NM_000041.3:c.394C>T | NP_000032.1:p.Arg132Cys | |
| NM_001302688.1:c.472C>T | NP_001289617.1:p.Arg158Cys | |
| NM_001302689.1:c.394C>T | NP_001289618.1:p.Arg132Cys | |
| NM_001302690.1:c.394C>T | NP_001289619.1:p.Arg132Cys | |
| NM_001302691.1:c.394C>T | NP_001289620.1:p.Arg132Cys | |
| NM_000041.4:c.394C>T MANE Select | NP_000032.1:p.Arg132Cys | |
| NM_001302688.2:c.472C>T | NP_001289617.1:p.Arg158Cys | |
| NM_001302689.2:c.394C>T | NP_001289618.1:p.Arg132Cys | |
| NM_001302691.2:c.394C>T | NP_001289620.1:p.Arg132Cys | |
| NM_001302690.2:c.394C>T | NP_001289619.1:p.Arg132Cys |