Linked Data
ClinVar Variation Id:
760586
ClinVar RCV Id:
RCV001442192
dbSNP Id:
rs1590104476
gnomAD v4:
11-19188294-C-T
MyVariant Identifiers:
chr11:g.19209841C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19188294C>T , CM000673.2:g.19188294C>T | GRCh38 |
| NC_000011.9:g.19209841C>T , CM000673.1:g.19209841C>T | GRCh37 |
| NC_000011.8:g.19166417C>T | NCBI36 |
| NG_011932.2:g.27280G>A , LRG_440:g.27280G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265968.9:c.123G>A MANE Select | ENSP00000265968.3:p.Arg41= | |
| ENST00000533783.2:c.123G>A | ENSP00000431813.1:p.Arg41= | |
| ENST00000647990.1:c.123G>A | ENSP00000496798.1:p.Arg41= | |
| ENST00000648719.1:c.113-3249G>A | ENSP00000497633.1:n.113-3249G>A | |
| ENST00000649235.1:c.123G>A | ENSP00000497388.1:p.Arg41= | |
| ENST00000649842.1:c.113-1946G>A | ENSP00000497531.1:n.113-1946G>A | |
| ENST00000265968.7:c.123G>A | ENSP00000265968.3:p.Arg41= | |
| ENST00000533783.1:c.123G>A | ENSP00000431813.1:p.Arg41= | |
| NM_003476.4:c.123G>A | NP_003467.1:p.Arg41= | |
| XM_024448698.1:c.113-1946G>A | XP_024304466.1:n.113-1946G>A | |
| NM_001369404.1:c.113-1946G>A | NP_001356333.1:n.113-1946G>A | |
| NM_003476.5:c.123G>A MANE Select | NP_003467.1:p.Arg41= |