Linked Data
ClinVar Variation Id:
259581
dbSNP Id:
rs11553600
ExAC:
19:39196736 G / A
gnomAD v2:
19-39196736-G-A
gnomAD v3:
19-38706096-G-A
gnomAD v4:
19-38706096-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38706096G>A , CM000681.2:g.38706096G>A | GRCh38 |
| NC_000019.9:g.39196736G>A , CM000681.1:g.39196736G>A | GRCh37 |
| NC_000019.8:g.43888576G>A | NCBI36 |
| NG_007082.2:g.63410G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440400.3:c.537G>A | ENSP00000398393.2:p.Pro179= | |
| ENST00000697712.1:c.396G>A | ENSP00000513410.1:p.Pro132= | |
| ENST00000252699.7:c.537G>A MANE Select | ENSP00000252699.2:p.Pro179= | |
| ENST00000424234.7:c.537G>A | ENSP00000411187.4:p.Pro179= | |
| ENST00000440400.2:c.537G>A | ENSP00000398393.2:p.Pro179= | |
| ENST00000252699.6:c.537G>A | ENSP00000252699.2:p.Pro179= | |
| ENST00000390009.7:c.163-8373G>A | ENSP00000439497.1:n.163-8373G>A | |
| ENST00000424234.6:c.272+5387G>A | ENSP00000411187.3:n.272+5387G>A | |
| ENST00000495553.1:n.443G>A | ||
| ENST00000588618.5:n.634G>A | ||
| ENST00000589528.1:c.285+5382G>A | ||
| NM_004924.4:c.537G>A | NP_004915.2:p.Pro179= | |
| XM_005259281.3:c.537G>A | XP_005259338.1:p.Pro179= | |
| XM_005259282.3:c.537G>A | XP_005259339.1:p.Pro179= | |
| XM_006723406.1:c.537G>A | XP_006723469.1:p.Pro179= | |
| NM_001322033.1:c.537G>A | NP_001308962.1:p.Pro179= | |
| NM_004924.5:c.537G>A | NP_004915.2:p.Pro179= | |
| XM_005259281.5:c.537G>A | XP_005259338.1:p.Pro179= | |
| XM_006723406.3:c.537G>A | XP_006723469.1:p.Pro179= | |
| XM_017027331.2:c.537G>A | XP_016882820.1:p.Pro179= | |
| XR_001753937.1:n.123-3932C>T | ||
| NM_004924.6:c.537G>A MANE Select | NP_004915.2:p.Pro179= | |
| NM_001322033.2:c.537G>A | NP_001308962.1:p.Pro179= |