Linked Data
ClinVar Variation Id:
1112952
ClinVar RCV Id:
RCV003761284
dbSNP Id:
rs2127378696
gnomAD v4:
6-32843042-A-T
MyVariant Identifiers:
chr6:g.32810819A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843042A>T , CM000668.2:g.32843042A>T | GRCh38 |
| NC_000006.11:g.32810819A>T , CM000668.1:g.32810819A>T | GRCh37 |
| NC_000006.10:g.32918797A>T | NCBI36 |
| NG_009793.3:g.729T>A | |
| NG_028165.1:g.6894T>A | |
| NG_009793.4:g.729T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.216T>A | ||
| ENST00000697612.1:n.894T>A | ||
| ENST00000374881.3:c.183T>A | ENSP00000364015.2:p.Val61= | |
| ENST00000374882.8:c.195T>A MANE Select | ENSP00000364016.4:p.Val65= | |
| ENST00000650411.1:n.1516T>A | ||
| ENST00000650793.1:n.216T>A | ||
| ENST00000374881.2:c.183T>A | ENSP00000364015.2:p.Val61= | |
| ENST00000374882.7:c.195T>A | ENSP00000364016.3:p.Val65= | |
| ENST00000395339.7:c.195T>A | ENSP00000378748.3:p.Val65= | |
| ENST00000484003.1:n.421T>A | ||
| NM_004159.4:c.183T>A | NP_004150.1:p.Val61= | |
| NM_148919.3:c.195T>A | NP_683720.2:p.Val65= | |
| NM_148919.4:c.195T>A MANE Select | NP_683720.2:p.Val65= | |
| NM_004159.5:c.183T>A | NP_004150.1:p.Val61= |