Linked Data
ClinVar Variation Id:
2474425
ClinVar RCV Id:
RCV004266731
dbSNP Id:
rs753169846
ExAC:
16:74943492 G / A
gnomAD v2:
16-74943492-G-A
gnomAD v3:
16-74909594-G-A
gnomAD v4:
16-74909594-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74909594G>A , CM000678.2:g.74909594G>A | GRCh38 |
| NC_000016.9:g.74943492G>A , CM000678.1:g.74943492G>A | GRCh37 |
| NC_000016.8:g.73500993G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262144.11:c.1549C>T MANE Select | ENSP00000262144.6:p.Pro517Ser | |
| ENST00000262144.10:c.1549C>T | ENSP00000262144.6:p.Pro517Ser | |
| ENST00000562371.5:n.493C>T | ||
| ENST00000566924.1:c.13C>T | ENSP00000457978.1:p.Pro5Ser | |
| ENST00000569229.5:c.198C>T | ||
| ENST00000570070.1:n.142C>T | ||
| ENST00000616369.4:c.1549C>T | ENSP00000482446.1:p.Pro517Ser | |
| NM_030581.3:c.1549C>T | NP_085058.3:p.Pro517Ser | |
| XM_005256146.2:c.1549C>T | XP_005256203.1:p.Pro517Ser | |
| XM_011523331.1:c.628C>T | XP_011521633.1:p.Pro210Ser | |
| XM_011523332.1:c.586C>T | XP_011521634.1:p.Pro196Ser | |
| XM_011523333.1:c.586C>T | XP_011521635.1:p.Pro196Ser | |
| XR_933430.1:n.1655C>T | ||
| NM_001324171.1:c.1549C>T | NP_001311100.1:p.Pro517Ser | |
| XM_005256146.3:c.1549C>T | XP_005256203.1:p.Pro517Ser | |
| XM_011523332.2:c.586C>T | XP_011521634.1:p.Pro196Ser | |
| XM_017023667.2:c.793C>T | XP_016879156.1:p.Pro265Ser | |
| XM_017023668.2:c.793C>T | XP_016879157.1:p.Pro265Ser | |
| XM_017023669.1:c.628C>T | XP_016879158.1:p.Pro210Ser | |
| XM_017023670.1:c.586C>T | XP_016879159.1:p.Pro196Ser | |
| XM_024450445.1:c.793C>T | XP_024306213.1:p.Pro265Ser | |
| XM_024450446.1:c.628C>T | XP_024306214.1:p.Pro210Ser | |
| XR_933430.2:n.1655C>T | ||
| NM_030581.4:c.1549C>T MANE Select | NP_085058.3:p.Pro517Ser | |
| NM_001324171.2:c.1549C>T | NP_001311100.1:p.Pro517Ser |