Linked Data
dbSNP Id:
rs770284698
ExAC:
10:96797004 T / C
gnomAD v2:
10-96797004-T-C
gnomAD v4:
10-95037247-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95037247T>C , CM000672.2:g.95037247T>C | GRCh38 |
| NC_000010.10:g.96797004T>C , CM000672.1:g.96797004T>C | GRCh37 |
| NC_000010.9:g.96786994T>C | NCBI36 |
| NG_007972.1:g.37251A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.1354A>G MANE Select | ENSP00000360317.3:p.Ile452Val | |
| ENST00000371270.5:c.1354A>G | ENSP00000360317.3:p.Ile452Val | |
| ENST00000490994.6:c.*1140A>G | ENSP00000433314.1:n.*1140A>G | |
| ENST00000525991.5:c.*929A>G | ENSP00000433842.1:n.*929A>G | |
| ENST00000526814.5:n.1609A>G | ||
| ENST00000527420.5:c.*211A>G | ENSP00000433191.1:n.*211A>G | |
| ENST00000527953.5:n.1648A>G | ||
| ENST00000531714.1:n.542A>G | ||
| ENST00000533320.5:n.1588A>G | ||
| ENST00000535898.5:c.1048A>G | ENSP00000445062.1:p.Ile350Val | |
| ENST00000539050.5:c.1144A>G | ENSP00000442343.2:p.Ile382Val | |
| ENST00000623108.3:c.1144A>G | ENSP00000485110.1:p.Ile382Val | |
| NM_000770.3:c.1354A>G MANE Select | NP_000761.3:p.Ile452Val | |
| NM_001198853.1:c.1144A>G | NP_001185782.1:p.Ile382Val | |
| NM_001198854.1:c.1048A>G | NP_001185783.1:p.Ile350Val | |
| NM_001198855.1:c.1144A>G | NP_001185784.1:p.Ile382Val | |
| XR_945610.1:n.1489A>G |