Linked Data
ClinVar Variation Id:
2815268
ClinVar RCV Id:
RCV003762468
gnomAD v4:
6-32842979-T-C
MyVariant Identifiers:
chr6:g.32810756T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842979T>C , CM000668.2:g.32842979T>C | GRCh38 |
| NC_000006.11:g.32810756T>C , CM000668.1:g.32810756T>C | GRCh37 |
| NC_000006.10:g.32918734T>C | NCBI36 |
| NG_009793.3:g.792A>G | |
| NG_028165.1:g.6957A>G | |
| NG_009793.4:g.792A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.279A>G | ||
| ENST00000697612.1:n.957A>G | ||
| ENST00000374881.3:c.246A>G | ENSP00000364015.2:p.Ala82= | |
| ENST00000374882.8:c.258A>G MANE Select | ENSP00000364016.4:p.Ala86= | |
| ENST00000650411.1:n.1579A>G | ||
| ENST00000650793.1:n.279A>G | ||
| ENST00000374881.2:c.246A>G | ENSP00000364015.2:p.Ala82= | |
| ENST00000374882.7:c.258A>G | ENSP00000364016.3:p.Ala86= | |
| ENST00000395339.7:c.258A>G | ENSP00000378748.3:p.Ala86= | |
| ENST00000484003.1:n.484A>G | ||
| NM_004159.4:c.246A>G | NP_004150.1:p.Ala82= | |
| NM_148919.3:c.258A>G | NP_683720.2:p.Ala86= | |
| NM_148919.4:c.258A>G MANE Select | NP_683720.2:p.Ala86= | |
| NM_004159.5:c.246A>G | NP_004150.1:p.Ala82= |