Linked Data
dbSNP Id:
rs756991186
ExAC:
12:48238756 C / T
gnomAD v2:
12-48238756-C-T
gnomAD v4:
12-47844973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47844973C>T , CM000674.2:g.47844973C>T | GRCh38 |
| NC_000012.11:g.48238756C>T , CM000674.1:g.48238756C>T | GRCh37 |
| NC_000012.10:g.46525023C>T | NCBI36 |
| NG_008731.1:g.65059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229022.9:c.1057G>A | ENSP00000229022.5:p.Glu353Lys | |
| ENST00000549336.6:c.1057G>A MANE Select | ENSP00000449573.2:p.Glu353Lys | |
| ENST00000229022.7:c.1057G>A | ENSP00000229022.3:p.Glu353Lys | |
| ENST00000395324.6:c.1057G>A | ENSP00000378734.2:p.Glu353Lys | |
| ENST00000547065.1:c.*1059G>A | ENSP00000449074.1:n.*1059G>A | |
| ENST00000549336.5:c.1057G>A | ENSP00000449573.1:p.Glu353Lys | |
| ENST00000550325.5:c.1207G>A | ENSP00000447173.1:p.Glu403Lys | |
| NM_000376.2:c.1057G>A | NP_000367.1:p.Glu353Lys | |
| NM_001017535.1:c.1057G>A | NP_001017535.1:p.Glu353Lys | |
| NM_001017536.1:c.1207G>A | NP_001017536.1:p.Glu403Lys | |
| XM_006719587.2:c.1057G>A | XP_006719650.1:p.Glu353Lys | |
| XM_011538720.1:c.1057G>A | XP_011537022.1:p.Glu353Lys | |
| NM_001364085.1:c.1057G>A | NP_001351014.1:p.Glu353Lys | |
| XM_006719587.3:c.1057G>A | XP_006719650.1:p.Glu353Lys | |
| XM_011538720.2:c.1057G>A | XP_011537022.1:p.Glu353Lys | |
| XM_024449178.1:c.1126G>A | XP_024304946.1:p.Glu376Lys | |
| NM_000376.3:c.1057G>A MANE Select | NP_000367.1:p.Glu353Lys | |
| NM_001017535.2:c.1057G>A | NP_001017535.1:p.Glu353Lys | |
| NM_001017536.2:c.1207G>A | NP_001017536.1:p.Glu403Lys | |
| NM_001364085.2:c.1057G>A | NP_001351014.1:p.Glu353Lys | |
| NM_001374661.1:c.1057G>A | NP_001361590.1:p.Glu353Lys | |
| NM_001374662.1:c.1057G>A | NP_001361591.1:p.Glu353Lys |