Linked Data
ClinVar Variation Id:
3055429
ClinVar RCV Id:
RCV003981272
dbSNP Id:
rs35201773
ExAC:
6:31603045 A / G
gnomAD v2:
6-31603045-A-G
gnomAD v3:
6-31635268-A-G
gnomAD v4:
6-31635268-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31635268A>G , CM000668.2:g.31635268A>G | GRCh38 |
| NC_000006.11:g.31603045A>G , CM000668.1:g.31603045A>G | GRCh37 |
| NC_000006.10:g.31711024A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.5297A>G MANE Select | ENSP00000365201.2:p.Asp1766Gly | |
| ENST00000376007.8:c.5297A>G | ENSP00000365175.4:p.Asp1766Gly | |
| ENST00000376033.2:c.5297A>G | ENSP00000365201.2:p.Asp1766Gly | |
| ENST00000469501.1:n.27A>G | ||
| ENST00000484787.1:n.708A>G | ||
| NM_004638.3:c.5297A>G | NP_004629.3:p.Asp1766Gly | |
| NM_080686.2:c.5297A>G | NP_542417.2:p.Asp1766Gly | |
| XM_011514890.1:c.5297A>G | XP_011513192.1:p.Asp1766Gly | |
| XM_017011274.1:c.5297A>G | XP_016866763.1:p.Asp1766Gly | |
| NM_004638.4:c.5297A>G MANE Select | NP_004629.3:p.Asp1766Gly | |
| NM_080686.3:c.5297A>G | NP_542417.2:p.Asp1766Gly |