Linked Data
dbSNP Id:
rs762582956
ExAC:
11:67354025 A / G
gnomAD v2:
11-67354025-A-G
gnomAD v4:
11-67586554-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586554A>G , CM000673.2:g.67586554A>G | GRCh38 |
| NC_000011.9:g.67354025A>G , CM000673.1:g.67354025A>G | GRCh37 |
| NC_000011.8:g.67110601A>G | NCBI36 |
| NG_012075.1:g.7960A>G , LRG_723:g.7960A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.502A>G | ENSP00000381604.1:p.Ile168Val | |
| ENST00000398606.10:c.610A>G MANE Select | ENSP00000381607.3:p.Ile204Val | |
| ENST00000398603.5:c.502A>G | ENSP00000381604.1:p.Ile168Val | |
| ENST00000398606.7:c.610A>G | ENSP00000381607.3:p.Ile204Val | |
| ENST00000467591.1:n.721A>G | ||
| ENST00000494593.1:n.1582A>G | ||
| ENST00000498765.5:c.673A>G | ||
| NM_000852.3:c.610A>G , LRG_723t1:c.610A>G | NP_000843.1:p.Ile204Val | |
| NM_000852.4:c.610A>G MANE Select | NP_000843.1:p.Ile204Val |