Linked Data
dbSNP Id:
rs367751099
ExAC:
8:86240792 A / G
gnomAD v2:
8-86240792-A-G
gnomAD v3:
8-85328563-A-G
gnomAD v4:
8-85328563-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85328563A>G , CM000670.2:g.85328563A>G | GRCh38 |
| NC_000008.10:g.86240792A>G , CM000670.1:g.86240792A>G | GRCh37 |
| NC_000008.9:g.86428044A>G | NCBI36 |
| NG_016221.1:g.54551T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523022.6:c.783T>C MANE Select | ENSP00000429798.1:p.Phe261= | |
| ENST00000431316.3:c.783T>C | ENSP00000392338.1:p.Phe261= | |
| ENST00000521679.5:c.532T>C | ||
| ENST00000522389.5:c.381T>C | ENSP00000427773.1:p.Phe127= | |
| ENST00000523022.5:c.783T>C | ENSP00000429798.1:p.Phe261= | |
| ENST00000523953.5:c.783T>C | ENSP00000430656.1:p.Phe261= | |
| ENST00000542576.5:c.783T>C | ENSP00000443517.1:p.Phe261= | |
| ENST00000626824.1:c.381T>C | ENSP00000486171.1:p.Phe127= | |
| NM_001128829.3:c.783T>C | NP_001122301.1:p.Phe261= | |
| NM_001128830.3:c.783T>C | NP_001122302.1:p.Phe261= | |
| NM_001128831.3:c.783T>C | NP_001122303.1:p.Phe261= | |
| NM_001164830.1:c.783T>C | NP_001158302.1:p.Phe261= | |
| NM_001291967.1:c.585T>C | NP_001278896.1:p.Phe195= | |
| NM_001291968.1:c.444T>C | NP_001278897.1:p.Phe148= | |
| NM_001738.4:c.783T>C | NP_001729.1:p.Phe261= | |
| XM_011517584.1:c.783T>C | XP_011515886.1:p.Phe261= | |
| NM_001128829.4:c.783T>C | NP_001122301.1:p.Phe261= | |
| NM_001128830.4:c.783T>C | NP_001122302.1:p.Phe261= | |
| NM_001128831.4:c.783T>C MANE Select | NP_001122303.1:p.Phe261= | |
| NM_001164830.2:c.783T>C | NP_001158302.1:p.Phe261= | |
| NM_001291967.2:c.585T>C | NP_001278896.1:p.Phe195= | |
| NM_001291968.2:c.444T>C | NP_001278897.1:p.Phe148= | |
| NM_001738.5:c.783T>C | NP_001729.1:p.Phe261= |