Linked Data
ClinVar Variation Id:
2340249
ClinVar RCV Id:
RCV004183088
dbSNP Id:
rs139437413
ExAC:
16:31087719 G / A
gnomAD v2:
16-31087719-G-A
gnomAD v4:
16-31076398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31076398G>A , CM000678.2:g.31076398G>A | GRCh38 |
| NC_000016.9:g.31087719G>A , CM000678.1:g.31087719G>A | GRCh37 |
| NC_000016.8:g.30995220G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300850.5:c.74G>A MANE Select | ENSP00000300850.5:p.Arg25Gln | |
| ENST00000394979.2:c.74G>A | ENSP00000378429.2:p.Arg25Gln | |
| ENST00000428260.1:c.74G>A | ENSP00000391271.1:p.Arg25Gln | |
| ENST00000564189.1:c.74G>A | ENSP00000456651.1:p.Arg25Gln | |
| NM_014699.3:c.74G>A | NP_055514.3:p.Arg25Gln | |
| XM_005255710.2:c.74G>A | XP_005255767.1:p.Arg25Gln | |
| XM_005255711.2:c.74G>A | XP_005255768.1:p.Arg25Gln | |
| XM_005255712.2:c.74G>A | XP_005255769.1:p.Arg25Gln | |
| XM_011545990.1:c.74G>A | XP_011544292.1:p.Arg25Gln | |
| XM_005255710.4:c.74G>A | XP_005255767.1:p.Arg25Gln | |
| XM_005255711.4:c.74G>A | XP_005255768.1:p.Arg25Gln | |
| XM_005255712.4:c.74G>A | XP_005255769.1:p.Arg25Gln | |
| XM_011545990.2:c.74G>A | XP_011544292.1:p.Arg25Gln | |
| XR_001752041.1:n.99G>A | ||
| NM_014699.4:c.74G>A MANE Select | NP_055514.3:p.Arg25Gln |