Linked Data
ClinVar Variation Id:
2417742
ClinVar RCV Id:
RCV003115211
dbSNP Id:
rs1441543204
gnomAD v2:
4-6304051-G-A
gnomAD v3:
4-6302324-G-A
gnomAD v4:
4-6302324-G-A
COSMIC:
COSM4585131
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302324G>A , CM000666.2:g.6302324G>A | GRCh38 |
| NC_000004.11:g.6304051G>A , CM000666.1:g.6304051G>A | GRCh37 |
| NC_000004.10:g.6354952G>A | NCBI36 |
| NG_011700.1:g.37475G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2565G>A | ENSP00000507852.1:p.Lys855= | |
| ENST00000683395.1:c.2506G>A | ||
| ENST00000684087.1:c.2529G>A | ENSP00000506978.1:p.Lys843= | |
| ENST00000506362.2:c.2280G>A | ENSP00000424103.2:p.Lys760= | |
| ENST00000673991.1:c.2565G>A | ENSP00000501033.1:p.Lys855= | |
| ENST00000226760.5:c.2529G>A MANE Select | ENSP00000226760.1:p.Lys843= | |
| ENST00000503569.5:c.2529G>A | ENSP00000423337.1:p.Lys843= | |
| ENST00000507765.1:n.2714G>A | ||
| NM_001145853.1:c.2529G>A | NP_001139325.1:p.Lys843= | |
| NM_006005.3:c.2529G>A MANE Select | NP_005996.2:p.Lys843= | |
| XM_017008586.1:c.2538G>A | XP_016864075.1:p.Lys846= |