Linked Data
ClinVar Variation Id:
259572
dbSNP Id:
rs145474119
ExAC:
19:39215193 G / A
gnomAD v2:
19-39215193-G-A
gnomAD v3:
19-38724553-G-A
gnomAD v4:
19-38724553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38724553G>A , CM000681.2:g.38724553G>A | GRCh38 |
| NC_000019.9:g.39215193G>A , CM000681.1:g.39215193G>A | GRCh37 |
| NC_000019.8:g.43907033G>A | NCBI36 |
| NG_007082.2:g.81867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440400.3:c.1998G>A | ENSP00000398393.2:p.Gln666= | |
| ENST00000697712.1:c.1857G>A | ENSP00000513410.1:p.Gln619= | |
| ENST00000252699.7:c.1998G>A MANE Select | ENSP00000252699.2:p.Gln666= | |
| ENST00000424234.7:c.1998G>A | ENSP00000411187.4:p.Gln666= | |
| ENST00000440400.2:c.1998G>A | ENSP00000398393.2:p.Gln666= | |
| ENST00000252699.6:c.1998G>A | ENSP00000252699.2:p.Gln666= | |
| ENST00000390009.7:c.1341G>A | ENSP00000439497.1:p.Gln447= | |
| ENST00000424234.6:c.828G>A | ENSP00000411187.3:p.Gln276= | |
| ENST00000440400.1:c.306G>A | ENSP00000398393.1:p.Gln102= | |
| ENST00000589528.1:c.286-5436G>A | ||
| NM_004924.4:c.1998G>A | NP_004915.2:p.Gln666= | |
| XM_005259281.3:c.1998G>A | XP_005259338.1:p.Gln666= | |
| XM_005259282.3:c.1998G>A | XP_005259339.1:p.Gln666= | |
| XM_006723406.1:c.1998G>A | XP_006723469.1:p.Gln666= | |
| NM_001322033.1:c.1998G>A | NP_001308962.1:p.Gln666= | |
| NM_004924.5:c.1998G>A | NP_004915.2:p.Gln666= | |
| XM_005259281.5:c.1998G>A | XP_005259338.1:p.Gln666= | |
| XM_006723406.3:c.1998G>A | XP_006723469.1:p.Gln666= | |
| XM_017027331.2:c.1998G>A | XP_016882820.1:p.Gln666= | |
| XR_001753937.1:n.122+3635C>T | ||
| NM_004924.6:c.1998G>A MANE Select | NP_004915.2:p.Gln666= | |
| NM_001322033.2:c.1998G>A | NP_001308962.1:p.Gln666= |