Linked Data
dbSNP Id:
rs550170308
ExAC:
11:122929836 G / A
gnomAD v2:
11-122929836-G-A
gnomAD v3:
11-123059128-G-A
gnomAD v4:
11-123059128-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123059128G>A , CM000673.2:g.123059128G>A | GRCh38 |
| NC_000011.9:g.122929836G>A , CM000673.1:g.122929836G>A | GRCh37 |
| NC_000011.8:g.122435046G>A | NCBI36 |
| NG_029473.1:g.8009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1254C>T MANE Select | ENSP00000432083.1:p.Thr418= | |
| ENST00000227378.7:c.1254C>T | ENSP00000227378.3:p.Thr418= | |
| ENST00000453788.6:c.1254C>T | ENSP00000404372.2:p.Thr418= | |
| ENST00000524552.5:c.27C>T | ENSP00000435908.1:p.Thr9= | |
| ENST00000526110.5:c.1197C>T | ENSP00000433584.1:p.Thr399= | |
| ENST00000532091.1:n.1001C>T | ||
| ENST00000532636.5:c.1254C>T | ENSP00000437125.1:p.Thr418= | |
| ENST00000533238.5:n.381-25C>T | ||
| ENST00000533540.5:c.816C>T | ENSP00000437189.1:p.Thr272= | |
| ENST00000534319.5:c.546C>T | ENSP00000433316.1:p.Thr182= | |
| ENST00000534624.5:c.1254C>T | ENSP00000432083.1:p.Thr418= | |
| NM_006597.5:c.1254C>T | NP_006588.1:p.Thr418= | |
| NM_153201.3:c.1254C>T | NP_694881.1:p.Thr418= | |
| XM_011542798.1:c.1254C>T | XP_011541100.1:p.Thr418= | |
| NM_006597.6:c.1254C>T MANE Select | NP_006588.1:p.Thr418= | |
| NM_153201.4:c.1254C>T | NP_694881.1:p.Thr418= |