Linked Data
dbSNP Id:
rs749697177
ExAC:
11:2593271 A / G
gnomAD v2:
11-2593271-A-G
gnomAD v3:
11-2572041-A-G
gnomAD v4:
11-2572041-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572041A>G , CM000673.2:g.2572041A>G | GRCh38 |
| NC_000011.9:g.2593271A>G , CM000673.1:g.2593271A>G | GRCh37 |
| NC_000011.8:g.2549847A>G | NCBI36 |
| NG_008935.1:g.132051A>G , LRG_287:g.132051A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.451A>G | ENSP00000434560.2:p.Met151Val | |
| ENST00000646564.2:c.478-11394A>G | ENSP00000495806.2:n.478-11394A>G | |
| ENST00000155840.12:c.712A>G MANE Select | ENSP00000155840.2:p.Met238Val | |
| ENST00000335475.6:c.331A>G | ENSP00000334497.5:p.Met111Val | |
| ENST00000646564.1:c.124-11394A>G | ENSP00000495806.1:n.124-11394A>G | |
| ENST00000155840.9:c.712A>G | ENSP00000155840.2:p.Met238Val | |
| ENST00000335475.5:c.331A>G | ENSP00000334497.5:p.Met111Val | |
| ENST00000496887.6:c.451A>G | ENSP00000434560.1:p.Met151Val | |
| NM_000218.2:c.712A>G , LRG_287t1:c.712A>G | NP_000209.2:p.Met238Val | |
| NM_181798.1:c.331A>G , LRG_287t2:c.331A>G | NP_861463.1:p.Met111Val | |
| NM_000218.3:c.712A>G MANE Select | NP_000209.2:p.Met238Val |