Linked Data
ClinVar Variation Id:
379584
ClinVar RCV Id:
RCV000431228
dbSNP Id:
rs1057520655
gnomAD v2:
2-219754979-A-G
gnomAD v3:
2-218890257-A-G
gnomAD v4:
2-218890257-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218890257A>G , CM000664.2:g.218890257A>G | GRCh38 |
| NC_000002.11:g.219754979A>G , CM000664.1:g.219754979A>G | GRCh37 |
| NC_000002.10:g.219463223A>G | NCBI36 |
| NG_012179.1:g.14725A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258411.8:c.650A>G MANE Select | ENSP00000258411.3:p.Asp217Gly | |
| ENST00000258411.7:c.650A>G | ENSP00000258411.3:p.Asp217Gly | |
| ENST00000458582.1:c.264-2517A>G | ||
| NM_025216.2:c.650A>G | NP_079492.2:p.Asp217Gly | |
| XM_011511928.1:c.599A>G | XP_011510230.1:p.Asp200Gly | |
| XM_011511929.1:c.554A>G | XP_011510231.1:p.Asp185Gly | |
| XM_011511930.1:c.377-2517A>G | XP_011510232.1:n.377-2517A>G | |
| XM_011511929.2:c.554A>G | XP_011510231.1:p.Asp185Gly | |
| NM_025216.3:c.650A>G MANE Select | NP_079492.2:p.Asp217Gly |