Linked Data
ClinVar Variation Id:
1407569
ClinVar RCV Id:
RCV001937821
dbSNP Id:
rs370441413
gnomAD v4:
7-92517534-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517534G>C , CM000669.2:g.92517534G>C | GRCh38 |
| NC_000007.13:g.92146848G>C , CM000669.1:g.92146848G>C | GRCh37 |
| NC_000007.12:g.91984784G>C | NCBI36 |
| NG_008341.1:g.15998C>G | |
| NG_008341.2:g.15998C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.981C>G MANE Select | ENSP00000248633.4:p.Ser327Arg | |
| ENST00000248633.8:c.981C>G | ENSP00000248633.4:p.Ser327Arg | |
| ENST00000428214.5:c.981C>G | ENSP00000394413.1:p.Ser327Arg | |
| ENST00000438045.5:c.274-3567C>G | ENSP00000410438.1:n.274-3567C>G | |
| ENST00000484913.5:n.1020C>G | ||
| NM_000466.2:c.981C>G | NP_000457.1:p.Ser327Arg | |
| NM_001282677.1:c.981C>G | NP_001269606.1:p.Ser327Arg | |
| NM_001282678.1:c.357C>G | NP_001269607.1:p.Ser119Arg | |
| XR_242246.3:n.1077C>G | ||
| XM_017012319.2:c.-686C>G | XP_016867808.1:n.-686C>G | |
| XR_001744808.2:n.91C>G | ||
| XR_242246.5:n.1028C>G | ||
| NM_000466.3:c.981C>G MANE Select | NP_000457.1:p.Ser327Arg | |
| NM_001282677.2:c.981C>G | NP_001269606.1:p.Ser327Arg | |
| NM_001282678.2:c.357C>G | NP_001269607.1:p.Ser119Arg |