Linked Data
dbSNP Id:
rs775646404
ExAC:
17:40690719 G / A
gnomAD v2:
17-40690719-G-A
gnomAD v4:
17-42538701-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42538701G>A , CM000679.2:g.42538701G>A | GRCh38 |
| NC_000017.10:g.40690719G>A , CM000679.1:g.40690719G>A | GRCh37 |
| NC_000017.9:g.37944245G>A | NCBI36 |
| NG_011552.1:g.7769G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225927.7:c.710G>A MANE Select | ENSP00000225927.1:p.Gly237Asp | |
| ENST00000225927.6:c.710G>A | ENSP00000225927.1:p.Gly237Asp | |
| ENST00000586516.5:c.312G>A | ||
| ENST00000591587.1:c.305G>A | ENSP00000467836.1:p.Gly102Asp | |
| NM_000263.3:c.710G>A | NP_000254.2:p.Gly237Asp | |
| XM_006721920.2:c.-33G>A | XP_006721983.1:n.-33G>A | |
| XM_011524840.1:c.-33G>A | XP_011523142.1:n.-33G>A | |
| XM_017024687.1:c.-33G>A | XP_016880176.1:n.-33G>A | |
| XM_024450771.1:c.767G>A | XP_024306539.1:p.Gly256Asp | |
| XM_024450772.1:c.-33G>A | XP_024306540.1:n.-33G>A | |
| NM_000263.4:c.710G>A MANE Select | NP_000254.2:p.Gly237Asp |