Linked Data
dbSNP Id:
rs1241941656
gnomAD v2:
11-640223-C-G
gnomAD v3:
11-640223-C-G
gnomAD v4:
11-640223-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640223C>G , CM000673.2:g.640223C>G | GRCh38 |
| NC_000011.9:g.640223C>G , CM000673.1:g.640223C>G | GRCh37 |
| NC_000011.8:g.630223C>G | NCBI36 |
| NG_021241.1:g.7919C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.974C>G MANE Select | ENSP00000176183.5:p.Thr325Ser | |
| ENST00000176183.5:c.974C>G | ENSP00000176183.5:p.Thr325Ser | |
| NM_000797.3:c.974C>G | NP_000788.2:p.Thr325Ser | |
| NM_000797.4:c.974C>G MANE Select | NP_000788.2:p.Thr325Ser |