Linked Data
ClinVar Variation Id:
259567
dbSNP Id:
rs139575917
ExAC:
19:39214633 C / T
gnomAD v2:
19-39214633-C-T
gnomAD v3:
19-38723993-C-T
gnomAD v4:
19-38723993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38723993C>T , CM000681.2:g.38723993C>T | GRCh38 |
| NC_000019.9:g.39214633C>T , CM000681.1:g.39214633C>T | GRCh37 |
| NC_000019.8:g.43906473C>T | NCBI36 |
| NG_007082.2:g.81307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440400.3:c.1608C>T | ENSP00000398393.2:p.Arg536= | |
| ENST00000697712.1:c.1467C>T | ENSP00000513410.1:p.Arg489= | |
| ENST00000252699.7:c.1608C>T MANE Select | ENSP00000252699.2:p.Arg536= | |
| ENST00000424234.7:c.1608C>T | ENSP00000411187.4:p.Arg536= | |
| ENST00000440400.2:c.1608C>T | ENSP00000398393.2:p.Arg536= | |
| ENST00000252699.6:c.1608C>T | ENSP00000252699.2:p.Arg536= | |
| ENST00000390009.7:c.951C>T | ENSP00000439497.1:p.Arg317= | |
| ENST00000424234.6:c.438C>T | ENSP00000411187.3:p.Arg146= | |
| ENST00000589528.1:c.286-5996C>T | ||
| NM_004924.4:c.1608C>T | NP_004915.2:p.Arg536= | |
| XM_005259281.3:c.1608C>T | XP_005259338.1:p.Arg536= | |
| XM_005259282.3:c.1608C>T | XP_005259339.1:p.Arg536= | |
| XM_006723406.1:c.1608C>T | XP_006723469.1:p.Arg536= | |
| NM_001322033.1:c.1608C>T | NP_001308962.1:p.Arg536= | |
| NM_004924.5:c.1608C>T | NP_004915.2:p.Arg536= | |
| XM_005259281.5:c.1608C>T | XP_005259338.1:p.Arg536= | |
| XM_006723406.3:c.1608C>T | XP_006723469.1:p.Arg536= | |
| XM_017027331.2:c.1608C>T | XP_016882820.1:p.Arg536= | |
| XR_001753937.1:n.122+4195G>A | ||
| NM_004924.6:c.1608C>T MANE Select | NP_004915.2:p.Arg536= | |
| NM_001322033.2:c.1608C>T | NP_001308962.1:p.Arg536= |