Linked Data
ClinVar Variation Id:
2534115
ClinVar RCV Id:
RCV003276149
dbSNP Id:
rs768243056
ExAC:
6:139694474 G / A
gnomAD v2:
6-139694474-G-A
gnomAD v3:
6-139373337-G-A
gnomAD v4:
6-139373337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373337G>A , CM000668.2:g.139373337G>A | GRCh38 |
| NC_000006.11:g.139694474G>A , CM000668.1:g.139694474G>A | GRCh37 |
| NC_000006.10:g.139736167G>A | NCBI36 |
| NG_016169.1:g.6312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.608C>T MANE Select | ENSP00000356623.2:p.Ala203Val | |
| ENST00000367651.3:c.608C>T | ENSP00000356623.2:p.Ala203Val | |
| ENST00000536159.2:c.608C>T | ENSP00000442831.1:p.Ala203Val | |
| ENST00000537332.2:c.623C>T | ENSP00000444198.2:p.Ala208Val | |
| ENST00000618718.1:c.477-40C>T | ENSP00000479918.1:n.477-40C>T | |
| NM_001168388.2:c.608C>T | NP_001161860.1:p.Ala203Val | |
| NM_001168389.2:c.623C>T | NP_001161861.2:p.Ala208Val | |
| NM_006079.4:c.608C>T | NP_006070.2:p.Ala203Val | |
| NM_006079.5:c.608C>T MANE Select | NP_006070.2:p.Ala203Val | |
| NM_001168388.3:c.608C>T | NP_001161860.1:p.Ala203Val | |
| NM_001168389.3:c.623C>T | NP_001161861.2:p.Ala208Val |