Linked Data
ClinVar Variation Id:
2222999
ClinVar RCV Id:
RCV004084161
dbSNP Id:
rs770665316
ExAC:
14:34269279 C / G
gnomAD v2:
14-34269279-C-G
gnomAD v4:
14-33800073-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800073C>G , CM000676.2:g.33800073C>G | GRCh38 |
| NC_000014.8:g.34269279C>G , CM000676.1:g.34269279C>G | GRCh37 |
| NC_000014.7:g.33339030C>G | NCBI36 |
| NG_013036.1:g.865821C>G | |
| NG_013036.2:g.865821C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1766C>G MANE Select | ENSP00000348460.4:p.Ala589Gly | |
| ENST00000551634.6:c.1775C>G | ENSP00000448373.2:p.Ala592Gly | |
| ENST00000680362.1:c.1666C>G | ||
| ENST00000681323.1:c.793+2492C>G | ||
| ENST00000346562.6:c.1670C>G | ENSP00000319610.5:p.Ala557Gly | |
| ENST00000356141.8:c.1766C>G | ENSP00000348460.4:p.Ala589Gly | |
| ENST00000357798.9:c.1727C>G | ENSP00000350446.5:p.Ala576Gly | |
| ENST00000548645.5:c.1676C>G | ENSP00000448916.1:p.Ala559Gly | |
| ENST00000551492.5:c.1781C>G | ENSP00000450392.1:p.Ala594Gly | |
| ENST00000551634.5:c.1688C>G | ENSP00000448373.1:p.Ala563Gly | |
| NM_001164749.1:c.1766C>G | NP_001158221.1:p.Ala589Gly | |
| NM_001165893.1:c.1676C>G | NP_001159365.1:p.Ala559Gly | |
| NM_022123.2:c.1670C>G | NP_071406.1:p.Ala557Gly | |
| NM_173159.2:c.1727C>G | NP_775182.1:p.Ala576Gly | |
| XM_005267991.2:c.1787C>G | XP_005268048.1:p.Ala596Gly | |
| XM_005267992.2:c.1781C>G | XP_005268049.1:p.Ala594Gly | |
| XM_005267993.2:c.1727C>G | XP_005268050.1:p.Ala576Gly | |
| XM_011537067.1:c.1817C>G | XP_011535369.1:p.Ala606Gly | |
| XM_011537068.1:c.1808C>G | XP_011535370.1:p.Ala603Gly | |
| XM_011537069.1:c.1778C>G | XP_011535371.1:p.Ala593Gly | |
| XM_011537070.1:c.1721C>G | XP_011535372.1:p.Ala574Gly | |
| XM_011537071.1:c.1688C>G | XP_011535373.1:p.Ala563Gly | |
| XM_011537072.1:c.1667C>G | XP_011535374.1:p.Ala556Gly | |
| XM_011537073.1:c.1460C>G | XP_011535375.1:p.Ala487Gly | |
| XM_011537074.1:c.1460C>G | XP_011535376.1:p.Ala487Gly | |
| XM_005267991.3:c.1874C>G | XP_005268048.2:p.Ala625Gly | |
| XM_005267992.3:c.1868C>G | XP_005268049.2:p.Ala623Gly | |
| XM_011537067.2:c.1817C>G | XP_011535369.1:p.Ala606Gly | |
| XM_011537069.2:c.1865C>G | XP_011535371.2:p.Ala622Gly | |
| XM_011537070.2:c.1721C>G | XP_011535372.1:p.Ala574Gly | |
| XM_011537071.2:c.1775C>G | XP_011535373.2:p.Ala592Gly | |
| XM_011537072.2:c.1667C>G | XP_011535374.1:p.Ala556Gly | |
| XM_017021582.1:c.1925C>G | XP_016877071.1:p.Ala642Gly | |
| XM_017021583.1:c.1916C>G | XP_016877072.1:p.Ala639Gly | |
| XM_017021584.1:c.1835C>G | XP_016877073.1:p.Ala612Gly | |
| XM_017021585.1:c.1784C>G | XP_016877074.1:p.Ala595Gly | |
| XM_017021586.1:c.1460C>G | XP_016877075.1:p.Ala487Gly | |
| XM_017021587.1:c.1460C>G | XP_016877076.1:p.Ala487Gly | |
| XM_017021588.1:c.1460C>G | XP_016877077.1:p.Ala487Gly | |
| NM_001164749.2:c.1766C>G MANE Select | NP_001158221.1:p.Ala589Gly | |
| NM_001165893.2:c.1676C>G | NP_001159365.1:p.Ala559Gly | |
| NM_022123.3:c.1670C>G | NP_071406.1:p.Ala557Gly | |
| NM_173159.3:c.1727C>G | NP_775182.1:p.Ala576Gly | |
| NM_001394988.1:c.1721C>G | NP_001381917.1:p.Ala574Gly | |
| NM_001394989.1:c.1667C>G | NP_001381918.1:p.Ala556Gly |