Linked Data
ClinVar Variation Id:
1698268
dbSNP Id:
rs151093565
ExAC:
5:74017589 C / T
gnomAD v2:
5-74017589-C-T
gnomAD v3:
5-74721764-C-T
gnomAD v4:
5-74721764-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74721764C>T , CM000667.2:g.74721764C>T | GRCh38 |
| NC_000005.9:g.74017589C>T , CM000667.1:g.74017589C>T | GRCh37 |
| NC_000005.8:g.74053345C>T | NCBI36 |
| NG_009770.1:g.41621C>T | |
| NG_011531.1:g.50454G>A | |
| NG_009770.2:g.86742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296805.8:c.2231G>A (GFM2) MANE Select | ENSP00000296805.3:p.Arg744Gln | |
| ENST00000296805.7:c.2231G>A (GFM2) | ENSP00000296805.3:p.Arg744Gln | |
| ENST00000345239.6:c.2090G>A (GFM2) | ENSP00000296804.3:p.Arg697Gln | |
| ENST00000503312.5:c.608+328C>T (HEXB) | ||
| ENST00000505859.1:c.255+328C>T (HEXB) | ||
| ENST00000509430.5:c.2231G>A (GFM2) | ENSP00000427004.1:p.Arg744Gln | |
| ENST00000513867.1:n.380+328C>T (HEXB) | ||
| ENST00000515125.5:n.634G>A (GFM2) | ||
| NM_001281302.1:c.2327G>A (GFM2) | NP_001268231.1:p.Arg776Gln | |
| NM_032380.4:c.2231G>A (GFM2) | NP_115756.2:p.Arg744Gln | |
| NM_170691.2:c.2090G>A (GFM2) | NP_733792.1:p.Arg697Gln | |
| NR_104006.1:n.2550G>A (GFM2) | ||
| XM_006714721.2:c.2096G>A (GFM2) | XP_006714784.1:p.Arg699Gln | |
| XM_011543690.1:c.2231G>A (GFM2) | XP_011541992.1:p.Arg744Gln | |
| XM_017009986.1:c.2231G>A (GFM2) | XP_016865475.1:p.Arg744Gln | |
| XR_002956185.1:n.3517G>A (GFM2) | ||
| NM_032380.5:c.2231G>A (GFM2) MANE Select | NP_115756.2:p.Arg744Gln | |
| NM_001281302.2:c.2327G>A (GFM2) | NP_001268231.1:p.Arg776Gln | |
| NM_170691.3:c.2090G>A (GFM2) | NP_733792.1:p.Arg697Gln | |
| NR_104006.2:n.2296G>A (GFM2) |