Linked Data
ClinVar Variation Id:
785540
ClinVar RCV Id:
RCV000967422
dbSNP Id:
rs116230305
ExAC:
16:74955911 G / C
gnomAD v2:
16-74955911-G-C
gnomAD v3:
16-74922013-G-C
gnomAD v4:
16-74922013-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74922013G>C , CM000678.2:g.74922013G>C | GRCh38 |
| NC_000016.9:g.74955911G>C , CM000678.1:g.74955911G>C | GRCh37 |
| NC_000016.8:g.73513412G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262144.11:c.820C>G MANE Select | ENSP00000262144.6:p.Pro274Ala | |
| ENST00000262144.10:c.820C>G | ENSP00000262144.6:p.Pro274Ala | |
| ENST00000536050.5:c.757C>G | ENSP00000481730.1:p.Pro253Ala | |
| ENST00000569549.5:n.194C>G | ||
| ENST00000616369.4:c.820C>G | ENSP00000482446.1:p.Pro274Ala | |
| NM_030581.3:c.820C>G | NP_085058.3:p.Pro274Ala | |
| XM_005256146.2:c.820C>G | XP_005256203.1:p.Pro274Ala | |
| XM_011523331.1:c.-22C>G | XP_011521633.1:n.-22C>G | |
| XM_011523332.1:c.-169C>G | XP_011521634.1:n.-169C>G | |
| XM_011523333.1:c.-89C>G | XP_011521635.1:n.-89C>G | |
| XR_933430.1:n.926C>G | ||
| NM_001324171.1:c.820C>G | NP_001311100.1:p.Pro274Ala | |
| NM_001324172.1:c.820C>G | NP_001311101.1:p.Pro274Ala | |
| XM_005256146.3:c.820C>G | XP_005256203.1:p.Pro274Ala | |
| XM_011523332.2:c.-169C>G | XP_011521634.1:n.-169C>G | |
| XM_017023667.2:c.64C>G | XP_016879156.1:p.Pro22Ala | |
| XM_017023668.2:c.64C>G | XP_016879157.1:p.Pro22Ala | |
| XM_017023669.1:c.-22C>G | XP_016879158.1:n.-22C>G | |
| XM_017023670.1:c.-89C>G | XP_016879159.1:n.-89C>G | |
| XM_024450445.1:c.64C>G | XP_024306213.1:p.Pro22Ala | |
| XM_024450446.1:c.-22C>G | XP_024306214.1:n.-22C>G | |
| XR_933430.2:n.926C>G | ||
| NM_030581.4:c.820C>G MANE Select | NP_085058.3:p.Pro274Ala | |
| NM_001324171.2:c.820C>G | NP_001311100.1:p.Pro274Ala | |
| NM_001324172.2:c.820C>G | NP_001311101.1:p.Pro274Ala |