Linked Data
ClinVar Variation Id:
285686
dbSNP Id:
rs145272777
ExAC:
2:71894521 C / A
gnomAD v2:
2-71894521-C-A
gnomAD v3:
2-71667391-C-A
gnomAD v4:
2-71667391-C-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71667391C>A , CM000664.2:g.71667391C>A | GRCh38 |
| NC_000002.11:g.71894521C>A , CM000664.1:g.71894521C>A | GRCh37 |
| NC_000002.10:g.71748029C>A | NCBI36 |
| NG_008694.1:g.218769C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2747C>A | ENSP00000513536.1:p.Pro916Gln | |
| ENST00000698058.1:c.1964C>A | ENSP00000513537.1:p.Pro655Gln | |
| ENST00000698059.1:c.2072C>A | ENSP00000513538.1:p.Pro691Gln | |
| ENST00000258104.8:c.5216C>A MANE Plus Clinical | ENSP00000258104.3:p.Pro1739Gln | |
| ENST00000410020.8:c.5333C>A MANE Select | ENSP00000386881.3:p.Pro1778Gln | |
| ENST00000258104.7:c.5216C>A | ENSP00000258104.3:p.Pro1739Gln | |
| ENST00000394120.6:c.5219C>A | ENSP00000377678.2:p.Pro1740Gln | |
| ENST00000409366.5:c.5282C>A | ENSP00000386512.1:p.Pro1761Gln | |
| ENST00000409582.7:c.5330C>A | ENSP00000386547.3:p.Pro1777Gln | |
| ENST00000409651.5:c.5312C>A | ENSP00000386683.1:p.Pro1771Gln | |
| ENST00000409744.5:c.5240C>A | ENSP00000386285.1:p.Pro1747Gln | |
| ENST00000409762.5:c.5267C>A | ENSP00000387137.1:p.Pro1756Gln | |
| ENST00000410020.7:c.5333C>A | ENSP00000386881.3:p.Pro1778Gln | |
| ENST00000410041.1:c.5270C>A | ENSP00000386617.1:p.Pro1757Gln | |
| ENST00000413539.6:c.5309C>A | ENSP00000407046.2:p.Pro1770Gln | |
| ENST00000429174.6:c.5279C>A | ENSP00000398305.2:p.Pro1760Gln | |
| ENST00000479049.6:n.2101C>A | ||
| NM_001130455.1:c.5219C>A | NP_001123927.1:p.Pro1740Gln | |
| NM_001130976.1:c.5174C>A | NP_001124448.1:p.Pro1725Gln | |
| NM_001130977.1:c.5237C>A | NP_001124449.1:p.Pro1746Gln | |
| NM_001130978.1:c.5279C>A | NP_001124450.1:p.Pro1760Gln | |
| NM_001130979.1:c.5309C>A | NP_001124451.1:p.Pro1770Gln | |
| NM_001130980.1:c.5267C>A | NP_001124452.1:p.Pro1756Gln | |
| NM_001130981.1:c.5330C>A | NP_001124453.1:p.Pro1777Gln | |
| NM_001130982.1:c.5312C>A | NP_001124454.1:p.Pro1771Gln | |
| NM_001130983.1:c.5282C>A | NP_001124455.1:p.Pro1761Gln | |
| NM_001130984.1:c.5240C>A | NP_001124456.1:p.Pro1747Gln | |
| NM_001130985.1:c.5270C>A | NP_001124457.1:p.Pro1757Gln | |
| NM_001130986.1:c.5177C>A | NP_001124458.1:p.Pro1726Gln | |
| NM_001130987.1:c.5333C>A | NP_001124459.1:p.Pro1778Gln | |
| NM_003494.3:c.5216C>A | NP_003485.1:p.Pro1739Gln | |
| XM_005264584.3:c.5375C>A | XP_005264641.1:p.Pro1792Gln | |
| XM_005264585.3:c.5372C>A | XP_005264642.1:p.Pro1791Gln | |
| XM_005264584.4:c.5375C>A | XP_005264641.1:p.Pro1792Gln | |
| XM_005264585.5:c.5372C>A | XP_005264642.1:p.Pro1791Gln | |
| NM_001130987.2:c.5333C>A MANE Select | NP_001124459.1:p.Pro1778Gln | |
| NM_001130455.2:c.5219C>A | NP_001123927.1:p.Pro1740Gln | |
| NM_001130976.2:c.5174C>A | NP_001124448.1:p.Pro1725Gln | |
| NM_001130977.2:c.5237C>A | NP_001124449.1:p.Pro1746Gln | |
| NM_001130978.2:c.5279C>A | NP_001124450.1:p.Pro1760Gln | |
| NM_001130979.2:c.5309C>A | NP_001124451.1:p.Pro1770Gln | |
| NM_001130980.2:c.5267C>A | NP_001124452.1:p.Pro1756Gln | |
| NM_001130981.2:c.5330C>A | NP_001124453.1:p.Pro1777Gln | |
| NM_001130982.2:c.5312C>A | NP_001124454.1:p.Pro1771Gln | |
| NM_001130983.2:c.5282C>A | NP_001124455.1:p.Pro1761Gln | |
| NM_001130984.2:c.5240C>A | NP_001124456.1:p.Pro1747Gln | |
| NM_001130985.2:c.5270C>A | NP_001124457.1:p.Pro1757Gln | |
| NM_001130986.2:c.5177C>A | NP_001124458.1:p.Pro1726Gln | |
| NM_003494.4:c.5216C>A MANE Plus Clinical | NP_003485.1:p.Pro1739Gln |