Linked Data
ClinVar Variation Id:
67109
ClinVar RCV Id:
RCV000057771
RCV000148546
RCV000182121
RCV000219577
RCV001102797
RCV001108026
RCV001108024
RCV001080930
RCV001108025
RCV001841690
RCV002426616
dbSNP Id:
rs199472728
ExAC:
11:2594115 A / G
gnomAD v2:
11-2594115-A-G
gnomAD v3:
11-2572885-A-G
gnomAD v4:
11-2572885-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572885A>G , CM000673.2:g.2572885A>G | GRCh38 |
| NC_000011.9:g.2594115A>G , CM000673.1:g.2594115A>G | GRCh37 |
| NC_000011.8:g.2550691A>G | NCBI36 |
| NG_008935.1:g.132895A>G , LRG_287:g.132895A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.559A>G | ENSP00000434560.2:p.Ile187Val | |
| ENST00000646564.2:c.478-10550A>G | ENSP00000495806.2:n.478-10550A>G | |
| ENST00000155840.12:c.820A>G MANE Select | ENSP00000155840.2:p.Ile274Val | |
| ENST00000335475.6:c.439A>G | ENSP00000334497.5:p.Ile147Val | |
| ENST00000646564.1:c.124-10550A>G | ENSP00000495806.1:n.124-10550A>G | |
| ENST00000155840.9:c.820A>G | ENSP00000155840.2:p.Ile274Val | |
| ENST00000335475.5:c.439A>G | ENSP00000334497.5:p.Ile147Val | |
| ENST00000496887.6:c.559A>G | ENSP00000434560.1:p.Ile187Val | |
| NM_000218.2:c.820A>G , LRG_287t1:c.820A>G | NP_000209.2:p.Ile274Val | |
| NM_181798.1:c.439A>G , LRG_287t2:c.439A>G | NP_861463.1:p.Ile147Val | |
| NM_000218.3:c.820A>G MANE Select | NP_000209.2:p.Ile274Val |