Linked Data
dbSNP Id:
rs1294720781
gnomAD v2:
18-55222090-A-G
gnomAD v3:
18-57554858-A-G
gnomAD v4:
18-57554858-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57554858A>G , CM000680.2:g.57554858A>G | GRCh38 |
| NC_000018.9:g.55222090A>G , CM000680.1:g.55222090A>G | GRCh37 |
| NC_000018.8:g.53373088A>G | NCBI36 |
| NG_008175.1:g.36880T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592699.6:c.800T>C | ENSP00000466263.1:p.Val267Ala | |
| ENST00000682485.1:n.1074T>C | ||
| ENST00000262093.11:c.899T>C MANE Select | ENSP00000262093.6:p.Val300Ala | |
| ENST00000382873.8:c.683T>C | ENSP00000372326.4:p.Val228Ala | |
| ENST00000651787.1:n.1005T>C | ||
| ENST00000651812.1:n.496T>C | ||
| ENST00000652755.1:c.917T>C | ENSP00000498358.1:p.Val306Ala | |
| ENST00000262093.9:c.899T>C | ENSP00000262093.5:p.Val300Ala | |
| ENST00000382873.7:c.917T>C | ENSP00000372326.3:p.Val306Ala | |
| ENST00000585494.5:c.*626T>C | ENSP00000465243.1:n.*626T>C | |
| ENST00000591977.5:c.166T>C | ||
| ENST00000592699.5:c.800T>C | ENSP00000466263.1:p.Val267Ala | |
| NM_000140.3:c.899T>C | NP_000131.2:p.Val300Ala | |
| NM_001012515.2:c.917T>C | NP_001012533.1:p.Val306Ala | |
| XM_011525881.1:c.818T>C | XP_011524183.1:p.Val273Ala | |
| XM_011525882.1:c.683T>C | XP_011524184.1:p.Val228Ala | |
| NM_000140.4:c.899T>C | NP_000131.2:p.Val300Ala | |
| NM_001012515.3:c.917T>C | NP_001012533.1:p.Val306Ala | |
| XM_011525882.2:c.683T>C | XP_011524184.1:p.Val228Ala | |
| XM_017025614.2:c.800T>C | XP_016881103.1:p.Val267Ala | |
| NM_000140.5:c.899T>C MANE Select | NP_000131.2:p.Val300Ala | |
| NM_001012515.4:c.917T>C | NP_001012533.1:p.Val306Ala | |
| NM_001371094.1:c.800T>C | NP_001358023.1:p.Val267Ala | |
| NM_001371095.1:c.683T>C | NP_001358024.1:p.Val228Ala | |
| NM_001374778.1:c.899T>C | NP_001361707.1:p.Val300Ala |