Linked Data
dbSNP Id:
rs774314169
ExAC:
2:176958288 A / G
gnomAD v2:
2-176958288-A-G
gnomAD v4:
2-176093560-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093560A>G , CM000664.2:g.176093560A>G | GRCh38 |
| NC_000002.11:g.176958288A>G , CM000664.1:g.176958288A>G | GRCh37 |
| NC_000002.10:g.176666534A>G | NCBI36 |
| NG_008137.1:g.5757A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.670A>G MANE Select | ENSP00000376322.3:p.Ile224Val | |
| ENST00000392539.3:c.670A>G | ENSP00000376322.3:p.Ile224Val | |
| NM_000523.3:c.670A>G | NP_000514.2:p.Ile224Val | |
| XM_011511068.1:c.725-920A>G | XP_011509370.1:n.725-920A>G | |
| XM_011511068.2:c.725-920A>G | XP_011509370.1:n.725-920A>G | |
| NM_000523.4:c.670A>G MANE Select | NP_000514.2:p.Ile224Val |