Linked Data
ClinVar Variation Id:
290748
dbSNP Id:
rs538469200
ExAC:
7:193399 C / A
gnomAD v2:
7-193399-C-A
gnomAD v3:
7-193399-C-A
gnomAD v4:
7-193399-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.193399C>A , CM000669.2:g.193399C>A | GRCh38 |
| NC_000007.13:g.193399C>A , CM000669.1:g.193399C>A | GRCh37 |
| NC_000007.12:g.288482C>A | NCBI36 |
| NG_033970.1:g.5431C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.200C>A MANE Select | ENSP00000322323.5:p.Pro67His | |
| ENST00000313766.5:c.200C>A | ENSP00000322323.5:p.Pro67His | |
| NM_020223.3:c.200C>A | NP_064608.2:p.Pro67His | |
| XM_011515457.1:c.200C>A | XP_011513759.1:p.Pro67His | |
| XR_242097.3:n.426C>A | ||
| XM_017012450.1:c.200C>A | XP_016867939.1:p.Pro67His | |
| XM_017012451.1:c.200C>A | XP_016867940.1:p.Pro67His | |
| XM_017012452.1:c.200C>A | XP_016867941.1:p.Pro67His | |
| XM_017012453.1:c.200C>A | XP_016867942.1:p.Pro67His | |
| XM_017012454.1:c.200C>A | XP_016867943.1:p.Pro67His | |
| XR_001744837.1:n.426C>A | ||
| NM_020223.4:c.200C>A MANE Select | NP_064608.2:p.Pro67His |