Linked Data
dbSNP Id:
rs781615000
ExAC:
14:34269269 G / A
gnomAD v2:
14-34269269-G-A
gnomAD v3:
14-33800063-G-A
gnomAD v4:
14-33800063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800063G>A , CM000676.2:g.33800063G>A | GRCh38 |
| NC_000014.8:g.34269269G>A , CM000676.1:g.34269269G>A | GRCh37 |
| NC_000014.7:g.33339020G>A | NCBI36 |
| NG_013036.1:g.865811G>A | |
| NG_013036.2:g.865811G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1756G>A MANE Select | ENSP00000348460.4:p.Ala586Thr | |
| ENST00000551634.6:c.1765G>A | ENSP00000448373.2:p.Ala589Thr | |
| ENST00000680362.1:c.1656G>A | ||
| ENST00000681323.1:c.793+2482G>A | ||
| ENST00000346562.6:c.1660G>A | ENSP00000319610.5:p.Ala554Thr | |
| ENST00000356141.8:c.1756G>A | ENSP00000348460.4:p.Ala586Thr | |
| ENST00000357798.9:c.1717G>A | ENSP00000350446.5:p.Ala573Thr | |
| ENST00000548645.5:c.1666G>A | ENSP00000448916.1:p.Ala556Thr | |
| ENST00000551492.5:c.1771G>A | ENSP00000450392.1:p.Ala591Thr | |
| ENST00000551634.5:c.1678G>A | ENSP00000448373.1:p.Ala560Thr | |
| NM_001164749.1:c.1756G>A | NP_001158221.1:p.Ala586Thr | |
| NM_001165893.1:c.1666G>A | NP_001159365.1:p.Ala556Thr | |
| NM_022123.2:c.1660G>A | NP_071406.1:p.Ala554Thr | |
| NM_173159.2:c.1717G>A | NP_775182.1:p.Ala573Thr | |
| XM_005267991.2:c.1777G>A | XP_005268048.1:p.Ala593Thr | |
| XM_005267992.2:c.1771G>A | XP_005268049.1:p.Ala591Thr | |
| XM_005267993.2:c.1717G>A | XP_005268050.1:p.Ala573Thr | |
| XM_011537067.1:c.1807G>A | XP_011535369.1:p.Ala603Thr | |
| XM_011537068.1:c.1798G>A | XP_011535370.1:p.Ala600Thr | |
| XM_011537069.1:c.1768G>A | XP_011535371.1:p.Ala590Thr | |
| XM_011537070.1:c.1711G>A | XP_011535372.1:p.Ala571Thr | |
| XM_011537071.1:c.1678G>A | XP_011535373.1:p.Ala560Thr | |
| XM_011537072.1:c.1657G>A | XP_011535374.1:p.Ala553Thr | |
| XM_011537073.1:c.1450G>A | XP_011535375.1:p.Ala484Thr | |
| XM_011537074.1:c.1450G>A | XP_011535376.1:p.Ala484Thr | |
| XM_005267991.3:c.1864G>A | XP_005268048.2:p.Ala622Thr | |
| XM_005267992.3:c.1858G>A | XP_005268049.2:p.Ala620Thr | |
| XM_011537067.2:c.1807G>A | XP_011535369.1:p.Ala603Thr | |
| XM_011537069.2:c.1855G>A | XP_011535371.2:p.Ala619Thr | |
| XM_011537070.2:c.1711G>A | XP_011535372.1:p.Ala571Thr | |
| XM_011537071.2:c.1765G>A | XP_011535373.2:p.Ala589Thr | |
| XM_011537072.2:c.1657G>A | XP_011535374.1:p.Ala553Thr | |
| XM_017021582.1:c.1915G>A | XP_016877071.1:p.Ala639Thr | |
| XM_017021583.1:c.1906G>A | XP_016877072.1:p.Ala636Thr | |
| XM_017021584.1:c.1825G>A | XP_016877073.1:p.Ala609Thr | |
| XM_017021585.1:c.1774G>A | XP_016877074.1:p.Ala592Thr | |
| XM_017021586.1:c.1450G>A | XP_016877075.1:p.Ala484Thr | |
| XM_017021587.1:c.1450G>A | XP_016877076.1:p.Ala484Thr | |
| XM_017021588.1:c.1450G>A | XP_016877077.1:p.Ala484Thr | |
| NM_001164749.2:c.1756G>A MANE Select | NP_001158221.1:p.Ala586Thr | |
| NM_001165893.2:c.1666G>A | NP_001159365.1:p.Ala556Thr | |
| NM_022123.3:c.1660G>A | NP_071406.1:p.Ala554Thr | |
| NM_173159.3:c.1717G>A | NP_775182.1:p.Ala573Thr | |
| NM_001394988.1:c.1711G>A | NP_001381917.1:p.Ala571Thr | |
| NM_001394989.1:c.1657G>A | NP_001381918.1:p.Ala553Thr |