Linked Data
ClinVar Variation Id:
228712
dbSNP Id:
rs201747452
ExAC:
5:90087078 C / A
gnomAD v2:
5-90087078-C-A
gnomAD v3:
5-90791261-C-A
gnomAD v4:
5-90791261-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90791261C>A , CM000667.2:g.90791261C>A | GRCh38 |
| NC_000005.9:g.90087078C>A , CM000667.1:g.90087078C>A | GRCh37 |
| NC_000005.8:g.90122834C>A | NCBI36 |
| NG_007083.1:g.237462C>A | |
| NG_007083.2:g.266918C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14432C>A MANE Select | ENSP00000384582.2:p.Pro4811Gln | |
| ENST00000425867.3:c.3386C>A | ENSP00000392618.3:p.Pro1129Gln | |
| ENST00000507314.2:c.107C>A | ENSP00000491299.1:p.Pro36Gln | |
| ENST00000638510.1:n.1699C>A | ||
| ENST00000638585.1:n.198C>A | ||
| ENST00000638975.1:c.1061C>A | ENSP00000492630.1:p.Pro354Gln | |
| ENST00000639431.1:c.265+115052C>A | ENSP00000491057.1:n.265+115052C>A | |
| ENST00000640407.1:c.842C>A | ENSP00000491425.1:p.Pro281Gln | |
| ENST00000405460.6:c.14432C>A | ENSP00000384582.2:p.Pro4811Gln | |
| ENST00000425867.2:c.1415C>A | ENSP00000392618.2:p.Pro472Gln | |
| ENST00000507314.1:n.107C>A | ||
| NM_032119.3:c.14432C>A | NP_115495.3:p.Pro4811Gln | |
| NR_003149.1:n.14445C>A | ||
| XM_011543675.1:c.14429C>A | XP_011541977.1:p.Pro4810Gln | |
| XM_011543676.1:c.14351C>A | XP_011541978.1:p.Pro4784Gln | |
| XM_011543677.1:c.11735C>A | XP_011541979.1:p.Pro3912Gln | |
| XM_011543678.1:c.14432C>A | XP_011541980.1:p.Pro4811Gln | |
| NM_032119.4:c.14432C>A MANE Select | NP_115495.3:p.Pro4811Gln | |
| XM_017009963.2:c.14453C>A | XP_016865452.1:p.Pro4818Gln | |
| XM_017009964.2:c.14450C>A | XP_016865453.1:p.Pro4817Gln | |
| XM_017009965.1:c.14450C>A | XP_016865454.1:p.Pro4817Gln | |
| XM_017009966.2:c.14372C>A | XP_016865455.1:p.Pro4791Gln | |
| XM_017009967.1:c.14357C>A | XP_016865456.1:p.Pro4786Gln | |
| XM_017009968.2:c.14453C>A | XP_016865457.1:p.Pro4818Gln | |
| XM_017009969.2:c.14453C>A | XP_016865458.1:p.Pro4818Gln | |
| XM_017009970.2:c.14453C>A | XP_016865459.1:p.Pro4818Gln | |
| XM_017009971.2:c.14453C>A | XP_016865460.1:p.Pro4818Gln | |
| XM_017009972.1:c.7571C>A | XP_016865461.1:p.Pro2524Gln | |
| XM_017009973.1:c.7550C>A | XP_016865462.1:p.Pro2517Gln | |
| NR_003149.2:n.14448C>A |