Linked Data
dbSNP Id:
rs147366726
ExAC:
9:841842 C / A
gnomAD v2:
9-841842-C-A
gnomAD v4:
9-841842-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.841842C>A , CM000671.2:g.841842C>A | GRCh38 |
| NC_000009.11:g.841842C>A , CM000671.1:g.841842C>A | GRCh37 |
| NC_000009.10:g.831842C>A | NCBI36 |
| NG_009221.1:g.5153C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.4C>A MANE Select | ENSP00000371711.3:p.Pro2Thr | |
| ENST00000382276.7:c.4C>A | ENSP00000371711.3:p.Pro2Thr | |
| ENST00000564322.1:n.153C>A | ||
| NM_021951.2:c.4C>A | NP_068770.2:p.Pro2Thr | |
| XM_006716732.1:c.4C>A | XP_006716795.1:p.Pro2Thr | |
| XM_017014375.1:c.4C>A | XP_016869864.1:p.Pro2Thr | |
| NM_021951.3:c.4C>A MANE Select | NP_068770.2:p.Pro2Thr |