Linked Data
dbSNP Id:
rs368718022
ExAC:
18:29116346 C / G
gnomAD v2:
18-29116346-C-G
gnomAD v3:
18-31536383-C-G
gnomAD v4:
18-31536383-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31536383C>G , CM000680.2:g.31536383C>G | GRCh38 |
| NC_000018.9:g.29116346C>G , CM000680.1:g.29116346C>G | GRCh37 |
| NC_000018.8:g.27370344C>G | NCBI36 |
| NG_007072.3:g.43142C>G , LRG_397:g.43142C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1605C>G MANE Select | ENSP00000261590.8:p.Asp535Glu | |
| ENST00000261590.12:c.1605C>G | ENSP00000261590.8:p.Asp535Glu | |
| NM_001943.3:c.1605C>G , LRG_397t1:c.1605C>G | NP_001934.2:p.Asp535Glu | |
| NM_001943.4:c.1605C>G | NP_001934.2:p.Asp535Glu | |
| XM_024451095.1:c.1071C>G | XP_024306863.1:p.Asp357Glu | |
| NM_001943.5:c.1605C>G MANE Select | NP_001934.2:p.Asp535Glu |