Linked Data
dbSNP Id:
rs1865395714
gnomAD v4:
11-123058801-C-T
MyVariant Identifiers:
chr11:g.122929509C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123058801C>T , CM000673.2:g.123058801C>T | GRCh38 |
| NC_000011.9:g.122929509C>T , CM000673.1:g.122929509C>T | GRCh37 |
| NC_000011.8:g.122434719C>T | NCBI36 |
| NG_029473.1:g.8336G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1353G>A MANE Select | ENSP00000432083.1:p.Lys451= | |
| ENST00000227378.7:c.1353G>A | ENSP00000227378.3:p.Lys451= | |
| ENST00000453788.6:c.1353G>A | ENSP00000404372.2:p.Lys451= | |
| ENST00000524552.5:c.126G>A | ENSP00000435908.1:p.Lys42= | |
| ENST00000526110.5:c.1296G>A | ENSP00000433584.1:p.Lys432= | |
| ENST00000526686.1:c.9G>A | ENSP00000435019.1:p.Lys3= | |
| ENST00000532091.1:n.1328G>A | ||
| ENST00000532636.5:c.1353G>A | ENSP00000437125.1:p.Lys451= | |
| ENST00000533238.5:n.455G>A | ||
| ENST00000533540.5:c.915G>A | ENSP00000437189.1:p.Lys305= | |
| ENST00000534319.5:c.645G>A | ENSP00000433316.1:p.Lys215= | |
| ENST00000534624.5:c.1353G>A | ENSP00000432083.1:p.Lys451= | |
| NM_006597.5:c.1353G>A | NP_006588.1:p.Lys451= | |
| NM_153201.3:c.1353G>A | NP_694881.1:p.Lys451= | |
| XM_011542798.1:c.1353G>A | XP_011541100.1:p.Lys451= | |
| NM_006597.6:c.1353G>A MANE Select | NP_006588.1:p.Lys451= | |
| NM_153201.4:c.1353G>A | NP_694881.1:p.Lys451= |