Linked Data
ClinVar Variation Id:
67084
dbSNP Id:
rs120074178
ExAC:
11:2591949 G / T
gnomAD v2:
11-2591949-G-T
MyVariant Identifiers:
chr11:g.2591949G>T (hg19)
chr11:g.2591949_2591954delinsTGCTGC (hg19)
chr11:g.2570719G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570719G>T , CM000673.2:g.2570719G>T | GRCh38 |
| NC_000011.9:g.2591949G>T , CM000673.1:g.2591949G>T | GRCh37 |
| NC_000011.8:g.2548525G>T | NCBI36 |
| NG_008935.1:g.130729G>T , LRG_287:g.130729G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.308G>T | ENSP00000434560.2:p.Arg103Leu | |
| ENST00000646564.2:c.478-12716G>T | ENSP00000495806.2:n.478-12716G>T | |
| ENST00000155840.12:c.569G>T MANE Select | ENSP00000155840.2:p.Arg190Leu | |
| ENST00000335475.6:c.188G>T | ENSP00000334497.5:p.Arg63Leu | |
| ENST00000646564.1:c.124-12716G>T | ENSP00000495806.1:n.124-12716G>T | |
| ENST00000155840.9:c.569G>T | ENSP00000155840.2:p.Arg190Leu | |
| ENST00000335475.5:c.188G>T | ENSP00000334497.5:p.Arg63Leu | |
| ENST00000496887.6:c.308G>T | ENSP00000434560.1:p.Arg103Leu | |
| NM_000218.2:c.569G>T , LRG_287t1:c.569G>T | NP_000209.2:p.Arg190Leu | |
| NM_181798.1:c.188G>T , LRG_287t2:c.188G>T | NP_861463.1:p.Arg63Leu | |
| NM_000218.3:c.569G>T MANE Select | NP_000209.2:p.Arg190Leu |