Linked Data
dbSNP Id:
rs768360914
ExAC:
7:143018927 C / A
gnomAD v2:
7-143018927-C-A
gnomAD v4:
7-143321834-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321834C>A , CM000669.2:g.143321834C>A | GRCh38 |
| NC_000007.13:g.143018927C>A , CM000669.1:g.143018927C>A | GRCh37 |
| NC_000007.12:g.142729049C>A | NCBI36 |
| NG_009815.1:g.10709C>A | |
| NG_009815.2:g.10709C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.682C>A | ENSP00000498052.2:p.Pro228Thr | |
| ENST00000343257.7:c.682C>A MANE Select | ENSP00000339867.2:p.Pro228Thr | |
| ENST00000432192.6:c.450C>A | ||
| ENST00000455478.6:c.136C>A | ENSP00000400027.2:p.Pro46Thr | |
| ENST00000650516.1:c.682C>A | ENSP00000498052.1:p.Pro228Thr | |
| ENST00000343257.6:c.682C>A | ENSP00000339867.2:p.Pro228Thr | |
| ENST00000432192.5:c.140C>A | ||
| ENST00000455478.5:c.140C>A | ||
| ENST00000495612.1:n.140C>A | ||
| NM_000083.2:c.682C>A | NP_000074.2:p.Pro228Thr | |
| NR_046453.1:n.769C>A | ||
| XM_011515781.1:c.682C>A | XP_011514083.1:p.Pro228Thr | |
| XM_017011739.1:c.389C>A | XP_016867228.1:p.Pro130His | |
| XM_017011740.1:c.389C>A | XP_016867229.1:p.Pro130His | |
| NM_000083.3:c.682C>A MANE Select | NP_000074.3:p.Pro228Thr | |
| NR_046453.2:n.784C>A |