Linked Data
dbSNP Id:
rs764377860
ExAC:
14:34269541 C / T
gnomAD v2:
14-34269541-C-T
gnomAD v4:
14-33800335-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800335C>T , CM000676.2:g.33800335C>T | GRCh38 |
| NC_000014.8:g.34269541C>T , CM000676.1:g.34269541C>T | GRCh37 |
| NC_000014.7:g.33339292C>T | NCBI36 |
| NG_013036.1:g.866083C>T | |
| NG_013036.2:g.866083C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2028C>T MANE Select | ENSP00000348460.4:p.Asn676= | |
| ENST00000551634.6:c.2037C>T | ENSP00000448373.2:p.Asn679= | |
| ENST00000680362.1:c.1928C>T | ||
| ENST00000681323.1:c.793+2754C>T | ||
| ENST00000346562.6:c.1932C>T | ENSP00000319610.5:p.Asn644= | |
| ENST00000356141.8:c.2028C>T | ENSP00000348460.4:p.Asn676= | |
| ENST00000357798.9:c.1989C>T | ENSP00000350446.5:p.Asn663= | |
| ENST00000548645.5:c.1938C>T | ENSP00000448916.1:p.Asn646= | |
| ENST00000551492.5:c.2043C>T | ENSP00000450392.1:p.Asn681= | |
| ENST00000551634.5:c.1950C>T | ENSP00000448373.1:p.Asn650= | |
| NM_001164749.1:c.2028C>T | NP_001158221.1:p.Asn676= | |
| NM_001165893.1:c.1938C>T | NP_001159365.1:p.Asn646= | |
| NM_022123.2:c.1932C>T | NP_071406.1:p.Asn644= | |
| NM_173159.2:c.1989C>T | NP_775182.1:p.Asn663= | |
| XM_005267991.2:c.2049C>T | XP_005268048.1:p.Asn683= | |
| XM_005267992.2:c.2043C>T | XP_005268049.1:p.Asn681= | |
| XM_005267993.2:c.1989C>T | XP_005268050.1:p.Asn663= | |
| XM_011537067.1:c.2079C>T | XP_011535369.1:p.Asn693= | |
| XM_011537068.1:c.2070C>T | XP_011535370.1:p.Asn690= | |
| XM_011537069.1:c.2040C>T | XP_011535371.1:p.Asn680= | |
| XM_011537070.1:c.1983C>T | XP_011535372.1:p.Asn661= | |
| XM_011537071.1:c.1950C>T | XP_011535373.1:p.Asn650= | |
| XM_011537072.1:c.1929C>T | XP_011535374.1:p.Asn643= | |
| XM_011537073.1:c.1722C>T | XP_011535375.1:p.Asn574= | |
| XM_011537074.1:c.1722C>T | XP_011535376.1:p.Asn574= | |
| XM_005267991.3:c.2136C>T | XP_005268048.2:p.Asn712= | |
| XM_005267992.3:c.2130C>T | XP_005268049.2:p.Asn710= | |
| XM_011537067.2:c.2079C>T | XP_011535369.1:p.Asn693= | |
| XM_011537069.2:c.2127C>T | XP_011535371.2:p.Asn709= | |
| XM_011537070.2:c.1983C>T | XP_011535372.1:p.Asn661= | |
| XM_011537071.2:c.2037C>T | XP_011535373.2:p.Asn679= | |
| XM_011537072.2:c.1929C>T | XP_011535374.1:p.Asn643= | |
| XM_017021582.1:c.2187C>T | XP_016877071.1:p.Asn729= | |
| XM_017021583.1:c.2178C>T | XP_016877072.1:p.Asn726= | |
| XM_017021584.1:c.2097C>T | XP_016877073.1:p.Asn699= | |
| XM_017021585.1:c.2046C>T | XP_016877074.1:p.Asn682= | |
| XM_017021586.1:c.1722C>T | XP_016877075.1:p.Asn574= | |
| XM_017021587.1:c.1722C>T | XP_016877076.1:p.Asn574= | |
| XM_017021588.1:c.1722C>T | XP_016877077.1:p.Asn574= | |
| NM_001164749.2:c.2028C>T MANE Select | NP_001158221.1:p.Asn676= | |
| NM_001165893.2:c.1938C>T | NP_001159365.1:p.Asn646= | |
| NM_022123.3:c.1932C>T | NP_071406.1:p.Asn644= | |
| NM_173159.3:c.1989C>T | NP_775182.1:p.Asn663= | |
| NM_001394988.1:c.1983C>T | NP_001381917.1:p.Asn661= | |
| NM_001394989.1:c.1929C>T | NP_001381918.1:p.Asn643= |