Linked Data
ClinVar Variation Id:
30878
ClinVar RCV Id:
RCV000023863
dbSNP Id:
rs797044462
gnomAD v2:
7-288306-C-T
gnomAD v4:
7-248340-C-T
PubMed:
PMID:20825432
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.248340C>T , CM000669.2:g.248340C>T | GRCh38 |
| NC_000007.13:g.288306C>T , CM000669.1:g.288306C>T | GRCh37 |
| NG_033970.1:g.57976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.982C>T MANE Select | ENSP00000322323.5:p.Pro328Ser | |
| ENST00000313766.5:c.982C>T | ENSP00000322323.5:p.Pro328Ser | |
| ENST00000515795.1:n.639C>T | ||
| NM_020223.3:c.982C>T | NP_064608.2:p.Pro328Ser | |
| XR_242097.3:n.1129C>T | ||
| XM_017012450.1:c.1243C>T | XP_016867939.1:p.Pro415Ser | |
| XM_017012451.1:c.1240C>T | XP_016867940.1:p.Pro414Ser | |
| XM_017012452.1:c.1243C>T | XP_016867941.1:p.Pro415Ser | |
| XM_017012455.2:c.280C>T | XP_016867944.1:p.Pro94Ser | |
| XR_001744837.1:n.1129C>T | ||
| NM_020223.4:c.982C>T MANE Select | NP_064608.2:p.Pro328Ser |