Linked Data
dbSNP Id:
rs756974126
ExAC:
12:56351068 G / T
gnomAD v2:
12-56351068-G-T
gnomAD v4:
12-55957284-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55957284G>T , CM000674.2:g.55957284G>T | GRCh38 |
| NC_000012.11:g.56351068G>T , CM000674.1:g.56351068G>T | GRCh37 |
| NC_000012.10:g.54637335G>T | NCBI36 |
| NG_028086.1:g.14429C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000548747.6:c.1019C>A MANE Select | ENSP00000448828.1:p.Ala340Glu | |
| ENST00000449260.6:c.1019C>A | ENSP00000402758.2:p.Ala340Glu | |
| ENST00000546543.5:c.872C>A | ENSP00000446662.1:p.Ala291Glu | |
| ENST00000547137.5:c.857C>A | ENSP00000448849.1:p.Ala286Glu | |
| ENST00000548493.5:c.1019C>A | ENSP00000447374.1:p.Ala340Glu | |
| ENST00000548747.5:c.1019C>A | ENSP00000448828.1:p.Ala340Glu | |
| ENST00000548803.5:c.572C>A | ENSP00000447732.1:p.Ala191Glu | |
| ENST00000549404.5:c.681C>A | ||
| ENST00000549564.1:n.59C>A | ||
| ENST00000550447.5:c.358+1189C>A | ENSP00000448029.1:n.358+1189C>A | |
| ENST00000550464.5:c.761C>A | ENSP00000450036.1:p.Ala254Glu | |
| ENST00000552882.5:c.1019C>A | ENSP00000449690.1:p.Ala340Glu | |
| NM_001200053.1:c.761C>A | NP_001186982.1:p.Ala254Glu | |
| NM_001200054.1:c.1019C>A | NP_001186983.1:p.Ala340Glu | |
| NM_006928.4:c.1019C>A | NP_008859.1:p.Ala340Glu | |
| XM_006719569.1:c.1019C>A | XP_006719632.1:p.Ala340Glu | |
| XM_011538685.1:c.1019C>A | XP_011536987.1:p.Ala340Glu | |
| XM_011538686.1:c.1019C>A | XP_011536988.1:p.Ala340Glu | |
| XM_011538687.1:c.1019C>A | XP_011536989.1:p.Ala340Glu | |
| NM_001320121.1:c.1019C>A | NP_001307050.1:p.Ala340Glu | |
| NM_001320122.1:c.1019C>A | NP_001307051.1:p.Ala340Glu | |
| NM_001384361.1:c.1019C>A MANE Select | NP_001371290.1:p.Ala340Glu | |
| NM_006928.5:c.1019C>A | NP_008859.1:p.Ala340Glu |