Linked Data
dbSNP Id:
rs373755574
ExAC:
14:34269285 C / T
gnomAD v2:
14-34269285-C-T
gnomAD v3:
14-33800079-C-T
gnomAD v4:
14-33800079-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800079C>T , CM000676.2:g.33800079C>T | GRCh38 |
| NC_000014.8:g.34269285C>T , CM000676.1:g.34269285C>T | GRCh37 |
| NC_000014.7:g.33339036C>T | NCBI36 |
| NG_013036.1:g.865827C>T | |
| NG_013036.2:g.865827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1772C>T MANE Select | ENSP00000348460.4:p.Ala591Val | |
| ENST00000551634.6:c.1781C>T | ENSP00000448373.2:p.Ala594Val | |
| ENST00000680362.1:c.1672C>T | ||
| ENST00000681323.1:c.793+2498C>T | ||
| ENST00000346562.6:c.1676C>T | ENSP00000319610.5:p.Ala559Val | |
| ENST00000356141.8:c.1772C>T | ENSP00000348460.4:p.Ala591Val | |
| ENST00000357798.9:c.1733C>T | ENSP00000350446.5:p.Ala578Val | |
| ENST00000548645.5:c.1682C>T | ENSP00000448916.1:p.Ala561Val | |
| ENST00000551492.5:c.1787C>T | ENSP00000450392.1:p.Ala596Val | |
| ENST00000551634.5:c.1694C>T | ENSP00000448373.1:p.Ala565Val | |
| NM_001164749.1:c.1772C>T | NP_001158221.1:p.Ala591Val | |
| NM_001165893.1:c.1682C>T | NP_001159365.1:p.Ala561Val | |
| NM_022123.2:c.1676C>T | NP_071406.1:p.Ala559Val | |
| NM_173159.2:c.1733C>T | NP_775182.1:p.Ala578Val | |
| XM_005267991.2:c.1793C>T | XP_005268048.1:p.Ala598Val | |
| XM_005267992.2:c.1787C>T | XP_005268049.1:p.Ala596Val | |
| XM_005267993.2:c.1733C>T | XP_005268050.1:p.Ala578Val | |
| XM_011537067.1:c.1823C>T | XP_011535369.1:p.Ala608Val | |
| XM_011537068.1:c.1814C>T | XP_011535370.1:p.Ala605Val | |
| XM_011537069.1:c.1784C>T | XP_011535371.1:p.Ala595Val | |
| XM_011537070.1:c.1727C>T | XP_011535372.1:p.Ala576Val | |
| XM_011537071.1:c.1694C>T | XP_011535373.1:p.Ala565Val | |
| XM_011537072.1:c.1673C>T | XP_011535374.1:p.Ala558Val | |
| XM_011537073.1:c.1466C>T | XP_011535375.1:p.Ala489Val | |
| XM_011537074.1:c.1466C>T | XP_011535376.1:p.Ala489Val | |
| XM_005267991.3:c.1880C>T | XP_005268048.2:p.Ala627Val | |
| XM_005267992.3:c.1874C>T | XP_005268049.2:p.Ala625Val | |
| XM_011537067.2:c.1823C>T | XP_011535369.1:p.Ala608Val | |
| XM_011537069.2:c.1871C>T | XP_011535371.2:p.Ala624Val | |
| XM_011537070.2:c.1727C>T | XP_011535372.1:p.Ala576Val | |
| XM_011537071.2:c.1781C>T | XP_011535373.2:p.Ala594Val | |
| XM_011537072.2:c.1673C>T | XP_011535374.1:p.Ala558Val | |
| XM_017021582.1:c.1931C>T | XP_016877071.1:p.Ala644Val | |
| XM_017021583.1:c.1922C>T | XP_016877072.1:p.Ala641Val | |
| XM_017021584.1:c.1841C>T | XP_016877073.1:p.Ala614Val | |
| XM_017021585.1:c.1790C>T | XP_016877074.1:p.Ala597Val | |
| XM_017021586.1:c.1466C>T | XP_016877075.1:p.Ala489Val | |
| XM_017021587.1:c.1466C>T | XP_016877076.1:p.Ala489Val | |
| XM_017021588.1:c.1466C>T | XP_016877077.1:p.Ala489Val | |
| NM_001164749.2:c.1772C>T MANE Select | NP_001158221.1:p.Ala591Val | |
| NM_001165893.2:c.1682C>T | NP_001159365.1:p.Ala561Val | |
| NM_022123.3:c.1676C>T | NP_071406.1:p.Ala559Val | |
| NM_173159.3:c.1733C>T | NP_775182.1:p.Ala578Val | |
| NM_001394988.1:c.1727C>T | NP_001381917.1:p.Ala576Val | |
| NM_001394989.1:c.1673C>T | NP_001381918.1:p.Ala558Val |