Linked Data
ClinVar Variation Id:
1358170
ClinVar RCV Id:
RCV001894157
dbSNP Id:
rs1761910060
gnomAD v3:
6-42721916-T-C
gnomAD v4:
6-42721916-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721916T>C , CM000668.2:g.42721916T>C | GRCh38 |
| NC_000006.11:g.42689654T>C , CM000668.1:g.42689654T>C | GRCh37 |
| NC_000006.10:g.42797632T>C | NCBI36 |
| NG_009176.1:g.5705A>G | |
| NG_009176.2:g.5705A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.419A>G MANE Select | ENSP00000230381.5:p.Tyr140Cys | |
| ENST00000230381.6:c.419A>G | ENSP00000230381.5:p.Tyr140Cys | |
| NM_000322.4:c.419A>G | NP_000313.2:p.Tyr140Cys | |
| XR_427834.2:n.1074A>G | ||
| XR_926295.1:n.1074A>G | ||
| XR_427834.4:n.1124A>G | ||
| XR_926295.3:n.1124A>G | ||
| NM_000322.5:c.419A>G MANE Select | NP_000313.2:p.Tyr140Cys |