Linked Data
ClinVar Variation Id:
2629613
ClinVar RCV Id:
RCV003412255
dbSNP Id:
rs1761415135
gnomAD v4:
5-96429265-C-T
COSMIC:
COSM1695973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96429265C>T , CM000667.2:g.96429265C>T | GRCh38 |
| NC_000005.9:g.95764969C>T , CM000667.1:g.95764969C>T | GRCh37 |
| NC_000005.8:g.95790725C>T | NCBI36 |
| NG_021161.1:g.9017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.233G>A MANE Select | ENSP00000308024.2:p.Arg78Lys | |
| ENST00000311106.7:c.233G>A | ENSP00000308024.2:p.Arg78Lys | |
| ENST00000508626.5:c.92G>A | ENSP00000421600.1:p.Arg31Lys | |
| ENST00000509190.1:c.233G>A | ENSP00000427294.1:p.Arg78Lys | |
| NM_000439.4:c.233G>A | NP_000430.3:p.Arg78Lys | |
| NM_001177875.1:c.92G>A | NP_001171346.1:p.Arg31Lys | |
| NR_130776.1:n.354+49613C>T | ||
| NM_000439.5:c.233G>A MANE Select | NP_000430.3:p.Arg78Lys | |
| NM_001177875.2:c.92G>A | NP_001171346.1:p.Arg31Lys |