Linked Data
dbSNP Id:
rs774875119
ExAC:
6:143806363 A / G
gnomAD v2:
6-143806363-A-G
gnomAD v4:
6-143485226-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485226A>G , CM000668.2:g.143485226A>G | GRCh38 |
| NC_000006.11:g.143806363A>G , CM000668.1:g.143806363A>G | GRCh37 |
| NC_000006.10:g.143848056A>G | NCBI36 |
| NG_008459.1:g.39446A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1016A>G MANE Select | ENSP00000356563.4:p.Glu339Gly | |
| ENST00000367591.4:c.1016A>G | ENSP00000356563.4:p.Glu339Gly | |
| ENST00000585848.1:n.155A>G | ||
| NM_003630.2:c.1016A>G | NP_003621.1:p.Glu339Gly | |
| NM_003630.3:c.1016A>G MANE Select | NP_003621.1:p.Glu339Gly |