Linked Data
dbSNP Id:
rs756974126
ExAC:
12:56351068 G / A
gnomAD v2:
12-56351068-G-A
gnomAD v3:
12-55957284-G-A
gnomAD v4:
12-55957284-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55957284G>A , CM000674.2:g.55957284G>A | GRCh38 |
| NC_000012.11:g.56351068G>A , CM000674.1:g.56351068G>A | GRCh37 |
| NC_000012.10:g.54637335G>A | NCBI36 |
| NG_028086.1:g.14429C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000548747.6:c.1019C>T MANE Select | ENSP00000448828.1:p.Ala340Val | |
| ENST00000449260.6:c.1019C>T | ENSP00000402758.2:p.Ala340Val | |
| ENST00000546543.5:c.872C>T | ENSP00000446662.1:p.Ala291Val | |
| ENST00000547137.5:c.857C>T | ENSP00000448849.1:p.Ala286Val | |
| ENST00000548493.5:c.1019C>T | ENSP00000447374.1:p.Ala340Val | |
| ENST00000548747.5:c.1019C>T | ENSP00000448828.1:p.Ala340Val | |
| ENST00000548803.5:c.572C>T | ENSP00000447732.1:p.Ala191Val | |
| ENST00000549404.5:c.681C>T | ||
| ENST00000549564.1:n.59C>T | ||
| ENST00000550447.5:c.358+1189C>T | ENSP00000448029.1:n.358+1189C>T | |
| ENST00000550464.5:c.761C>T | ENSP00000450036.1:p.Ala254Val | |
| ENST00000552882.5:c.1019C>T | ENSP00000449690.1:p.Ala340Val | |
| NM_001200053.1:c.761C>T | NP_001186982.1:p.Ala254Val | |
| NM_001200054.1:c.1019C>T | NP_001186983.1:p.Ala340Val | |
| NM_006928.4:c.1019C>T | NP_008859.1:p.Ala340Val | |
| XM_006719569.1:c.1019C>T | XP_006719632.1:p.Ala340Val | |
| XM_011538685.1:c.1019C>T | XP_011536987.1:p.Ala340Val | |
| XM_011538686.1:c.1019C>T | XP_011536988.1:p.Ala340Val | |
| XM_011538687.1:c.1019C>T | XP_011536989.1:p.Ala340Val | |
| NM_001320121.1:c.1019C>T | NP_001307050.1:p.Ala340Val | |
| NM_001320122.1:c.1019C>T | NP_001307051.1:p.Ala340Val | |
| NM_001384361.1:c.1019C>T MANE Select | NP_001371290.1:p.Ala340Val | |
| NM_006928.5:c.1019C>T | NP_008859.1:p.Ala340Val |