Linked Data
dbSNP Id:
rs775629110
ExAC:
11:122929428 A / G
gnomAD v2:
11-122929428-A-G
gnomAD v3:
11-123058720-A-G
gnomAD v4:
11-123058720-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123058720A>G , CM000673.2:g.123058720A>G | GRCh38 |
| NC_000011.9:g.122929428A>G , CM000673.1:g.122929428A>G | GRCh37 |
| NC_000011.8:g.122434638A>G | NCBI36 |
| NG_029473.1:g.8417T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1434T>C MANE Select | ENSP00000432083.1:p.Phe478= | |
| ENST00000227378.7:c.1434T>C | ENSP00000227378.3:p.Phe478= | |
| ENST00000453788.6:c.1387+47T>C | ENSP00000404372.2:n.1387+47T>C | |
| ENST00000524552.5:c.207T>C | ENSP00000435908.1:p.Phe69= | |
| ENST00000526110.5:c.1377T>C | ENSP00000433584.1:p.Phe459= | |
| ENST00000526686.1:c.90T>C | ENSP00000435019.1:p.Phe30= | |
| ENST00000532091.1:n.1409T>C | ||
| ENST00000532636.5:c.1434T>C | ENSP00000437125.1:p.Phe478= | |
| ENST00000533540.5:c.996T>C | ENSP00000437189.1:p.Phe332= | |
| ENST00000534319.5:c.726T>C | ENSP00000433316.1:p.Phe242= | |
| ENST00000534624.5:c.1434T>C | ENSP00000432083.1:p.Phe478= | |
| NM_006597.5:c.1434T>C | NP_006588.1:p.Phe478= | |
| NM_153201.3:c.1387+47T>C | NP_694881.1:n.1387+47T>C | |
| XM_011542798.1:c.1434T>C | XP_011541100.1:p.Phe478= | |
| NM_006597.6:c.1434T>C MANE Select | NP_006588.1:p.Phe478= | |
| NM_153201.4:c.1387+47T>C | NP_694881.1:n.1387+47T>C |