Linked Data
ClinVar Variation Id:
2709370
ClinVar RCV Id:
RCV003549958
gnomAD v4:
11-67610536-G-A
MyVariant Identifiers:
chr11:g.67378007G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610536G>A , CM000673.2:g.67610536G>A | GRCh38 |
| NC_000011.9:g.67378007G>A , CM000673.1:g.67378007G>A | GRCh37 |
| NC_000011.8:g.67134583G>A | NCBI36 |
| NG_013353.1:g.8685G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.666G>A MANE Select | ENSP00000322450.6:p.Lys222= | |
| ENST00000647561.1:c.666G>A | ENSP00000497587.1:p.Lys222= | |
| ENST00000322776.10:c.666G>A | ENSP00000322450.6:p.Lys222= | |
| ENST00000415352.6:c.645G>A | ENSP00000395368.2:p.Lys215= | |
| ENST00000526169.1:n.408G>A | ||
| ENST00000526770.5:n.525G>A | ||
| ENST00000529927.5:c.639G>A | ENSP00000436766.1:p.Lys213= | |
| ENST00000532244.5:c.363G>A | ENSP00000435202.1:p.Lys121= | |
| ENST00000532303.5:c.363G>A | ENSP00000432015.1:p.Lys121= | |
| ENST00000533919.5:c.144G>A | ENSP00000435199.1:p.Lys48= | |
| NM_001166102.1:c.639G>A | NP_001159574.1:p.Lys213= | |
| NM_007103.3:c.666G>A | NP_009034.2:p.Lys222= | |
| NM_001166102.2:c.639G>A | NP_001159574.1:p.Lys213= | |
| NM_007103.4:c.666G>A MANE Select | NP_009034.2:p.Lys222= |