Linked Data
dbSNP Id:
rs1275546345
gnomAD v2:
11-122929440-A-T
gnomAD v3:
11-123058732-A-T
gnomAD v4:
11-123058732-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123058732A>T , CM000673.2:g.123058732A>T | GRCh38 |
| NC_000011.9:g.122929440A>T , CM000673.1:g.122929440A>T | GRCh37 |
| NC_000011.8:g.122434650A>T | NCBI36 |
| NG_029473.1:g.8405T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1422T>A MANE Select | ENSP00000432083.1:p.Ile474= | |
| ENST00000227378.7:c.1422T>A | ENSP00000227378.3:p.Ile474= | |
| ENST00000453788.6:c.1387+35T>A | ENSP00000404372.2:n.1387+35T>A | |
| ENST00000524552.5:c.195T>A | ENSP00000435908.1:p.Ile65= | |
| ENST00000526110.5:c.1365T>A | ENSP00000433584.1:p.Ile455= | |
| ENST00000526686.1:c.78T>A | ENSP00000435019.1:p.Ile26= | |
| ENST00000532091.1:n.1397T>A | ||
| ENST00000532636.5:c.1422T>A | ENSP00000437125.1:p.Ile474= | |
| ENST00000533540.5:c.984T>A | ENSP00000437189.1:p.Ile328= | |
| ENST00000534319.5:c.714T>A | ENSP00000433316.1:p.Ile238= | |
| ENST00000534624.5:c.1422T>A | ENSP00000432083.1:p.Ile474= | |
| NM_006597.5:c.1422T>A | NP_006588.1:p.Ile474= | |
| NM_153201.3:c.1387+35T>A | NP_694881.1:n.1387+35T>A | |
| XM_011542798.1:c.1422T>A | XP_011541100.1:p.Ile474= | |
| NM_006597.6:c.1422T>A MANE Select | NP_006588.1:p.Ile474= | |
| NM_153201.4:c.1387+35T>A | NP_694881.1:n.1387+35T>A |