Linked Data
ClinVar Variation Id:
888939
ClinVar RCV Id:
RCV001122559
dbSNP Id:
rs988974694
gnomAD v2:
19-12760979-G-A
gnomAD v3:
19-12650165-G-A
gnomAD v4:
19-12650165-G-A
COSMIC:
COSM3989711
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12650165G>A , CM000681.2:g.12650165G>A | GRCh38 |
| NC_000019.9:g.12760979G>A , CM000681.1:g.12760979G>A | GRCh37 |
| NC_000019.8:g.12621979G>A | NCBI36 |
| NG_008318.1:g.21613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2104C>T MANE Select | ENSP00000395473.2:p.Arg702Cys | |
| ENST00000221363.8:c.2101C>T | ENSP00000221363.4:p.Arg701Cys | |
| ENST00000456935.6:c.2104C>T | ENSP00000395473.2:p.Arg702Cys | |
| ENST00000466794.5:n.2694C>T | ||
| NM_000528.3:c.2104C>T | NP_000519.2:p.Arg702Cys | |
| NM_001173498.1:c.2101C>T | NP_001166969.1:p.Arg701Cys | |
| XM_005259913.1:c.2107C>T | XP_005259970.1:p.Arg703Cys | |
| XM_011528017.1:c.1003C>T | XP_011526319.1:p.Arg335Cys | |
| XM_005259913.2:c.2107C>T | XP_005259970.1:p.Arg703Cys | |
| XM_024451518.1:c.1003C>T | XP_024307286.1:p.Arg335Cys | |
| NM_000528.4:c.2104C>T MANE Select | NP_000519.2:p.Arg702Cys | |
| NM_001173498.2:c.2101C>T | NP_001166969.1:p.Arg701Cys |