Linked Data
gnomAD v3:
20-46011701-C-G
gnomAD v4:
20-46011701-C-G
MyVariant Identifiers:
chr20:g.44640340C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011701C>G , CM000682.2:g.46011701C>G | GRCh38 |
| NC_000020.10:g.44640340C>G , CM000682.1:g.44640340C>G | GRCh37 |
| NC_000020.9:g.44073747C>G | NCBI36 |
| NG_011468.1:g.7794C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.951C>G MANE Select | ENSP00000361405.3:p.Thr317= | |
| NM_004994.2:c.951C>G | NP_004985.2:p.Thr317= | |
| NM_004994.3:c.951C>G MANE Select | NP_004985.2:p.Thr317= |