MyVariant.info:
GRCh38
chr17:g.50188134C>A
gnomAD v4:
Joint Max Group AF
0.00000385 (SAS)
Exomes Max Group AF
0.00000407 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188134C>A , CM000679.2:g.50188134C>A | GRCh38 |
| NG_007400.1:g.18506G>T , LRG_1:g.18506G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3223G>T MANE Select | ENSP00000225964.6:p.Ala1075Ser | |
| ENST00000225964.9:c.3223G>T | ENSP00000225964.5:p.Ala1075Ser | |
| ENST00000486572.1:n.421G>T | ||
| ENST00000511732.1:n.547G>T | ||
| NM_000088.3:c.3223G>T , LRG_1t1:c.3223G>T | NP_000079.2:p.Ala1075Ser | |
| XM_005257058.3:c.2953G>T | XP_005257115.2:p.Ala985Ser | |
| XM_005257059.3:c.2305G>T | XP_005257116.2:p.Ala769Ser | |
| XM_011524341.1:c.3025G>T | XP_011522643.1:p.Ala1009Ser | |
| XM_005257058.4:c.2953G>T | XP_005257115.2:p.Ala985Ser | |
| XM_005257059.4:c.2305G>T | XP_005257116.2:p.Ala769Ser | |
| NM_000088.4:c.3223G>T MANE Select | NP_000079.2:p.Ala1075Ser |