Linked Data
dbSNP Id:
rs373343322
ExAC:
9:841896 C / G
gnomAD v2:
9-841896-C-G
gnomAD v3:
9-841896-C-G
gnomAD v4:
9-841896-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.841896C>G , CM000671.2:g.841896C>G | GRCh38 |
| NC_000009.11:g.841896C>G , CM000671.1:g.841896C>G | GRCh37 |
| NC_000009.10:g.831896C>G | NCBI36 |
| NG_009221.1:g.5207C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.58C>G MANE Select | ENSP00000371711.3:p.Pro20Ala | |
| ENST00000382276.7:c.58C>G | ENSP00000371711.3:p.Pro20Ala | |
| ENST00000564322.1:n.207C>G | ||
| NM_021951.2:c.58C>G | NP_068770.2:p.Pro20Ala | |
| XM_006716732.1:c.58C>G | XP_006716795.1:p.Pro20Ala | |
| XM_017014375.1:c.58C>G | XP_016869864.1:p.Pro20Ala | |
| NM_021951.3:c.58C>G MANE Select | NP_068770.2:p.Pro20Ala |