Linked Data
dbSNP Id:
rs750013029
ExAC:
14:34269576 C / T
gnomAD v2:
14-34269576-C-T
gnomAD v3:
14-33800370-C-T
gnomAD v4:
14-33800370-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800370C>T , CM000676.2:g.33800370C>T | GRCh38 |
| NC_000014.8:g.34269576C>T , CM000676.1:g.34269576C>T | GRCh37 |
| NC_000014.7:g.33339327C>T | NCBI36 |
| NG_013036.1:g.866118C>T | |
| NG_013036.2:g.866118C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2063C>T MANE Select | ENSP00000348460.4:p.Ser688Phe | |
| ENST00000551634.6:c.2072C>T | ENSP00000448373.2:p.Ser691Phe | |
| ENST00000680362.1:c.1963C>T | ||
| ENST00000681323.1:c.793+2789C>T | ||
| ENST00000346562.6:c.1967C>T | ENSP00000319610.5:p.Ser656Phe | |
| ENST00000356141.8:c.2063C>T | ENSP00000348460.4:p.Ser688Phe | |
| ENST00000357798.9:c.2024C>T | ENSP00000350446.5:p.Ser675Phe | |
| ENST00000548645.5:c.1973C>T | ENSP00000448916.1:p.Ser658Phe | |
| ENST00000551492.5:c.2078C>T | ENSP00000450392.1:p.Ser693Phe | |
| ENST00000551634.5:c.1985C>T | ENSP00000448373.1:p.Ser662Phe | |
| NM_001164749.1:c.2063C>T | NP_001158221.1:p.Ser688Phe | |
| NM_001165893.1:c.1973C>T | NP_001159365.1:p.Ser658Phe | |
| NM_022123.2:c.1967C>T | NP_071406.1:p.Ser656Phe | |
| NM_173159.2:c.2024C>T | NP_775182.1:p.Ser675Phe | |
| XM_005267991.2:c.2084C>T | XP_005268048.1:p.Ser695Phe | |
| XM_005267992.2:c.2078C>T | XP_005268049.1:p.Ser693Phe | |
| XM_005267993.2:c.2024C>T | XP_005268050.1:p.Ser675Phe | |
| XM_011537067.1:c.2114C>T | XP_011535369.1:p.Ser705Phe | |
| XM_011537068.1:c.2105C>T | XP_011535370.1:p.Ser702Phe | |
| XM_011537069.1:c.2075C>T | XP_011535371.1:p.Ser692Phe | |
| XM_011537070.1:c.2018C>T | XP_011535372.1:p.Ser673Phe | |
| XM_011537071.1:c.1985C>T | XP_011535373.1:p.Ser662Phe | |
| XM_011537072.1:c.1964C>T | XP_011535374.1:p.Ser655Phe | |
| XM_011537073.1:c.1757C>T | XP_011535375.1:p.Ser586Phe | |
| XM_011537074.1:c.1757C>T | XP_011535376.1:p.Ser586Phe | |
| XM_005267991.3:c.2171C>T | XP_005268048.2:p.Ser724Phe | |
| XM_005267992.3:c.2165C>T | XP_005268049.2:p.Ser722Phe | |
| XM_011537067.2:c.2114C>T | XP_011535369.1:p.Ser705Phe | |
| XM_011537069.2:c.2162C>T | XP_011535371.2:p.Ser721Phe | |
| XM_011537070.2:c.2018C>T | XP_011535372.1:p.Ser673Phe | |
| XM_011537071.2:c.2072C>T | XP_011535373.2:p.Ser691Phe | |
| XM_011537072.2:c.1964C>T | XP_011535374.1:p.Ser655Phe | |
| XM_017021582.1:c.2222C>T | XP_016877071.1:p.Ser741Phe | |
| XM_017021583.1:c.2213C>T | XP_016877072.1:p.Ser738Phe | |
| XM_017021584.1:c.2132C>T | XP_016877073.1:p.Ser711Phe | |
| XM_017021585.1:c.2081C>T | XP_016877074.1:p.Ser694Phe | |
| XM_017021586.1:c.1757C>T | XP_016877075.1:p.Ser586Phe | |
| XM_017021587.1:c.1757C>T | XP_016877076.1:p.Ser586Phe | |
| XM_017021588.1:c.1757C>T | XP_016877077.1:p.Ser586Phe | |
| NM_001164749.2:c.2063C>T MANE Select | NP_001158221.1:p.Ser688Phe | |
| NM_001165893.2:c.1973C>T | NP_001159365.1:p.Ser658Phe | |
| NM_022123.3:c.1967C>T | NP_071406.1:p.Ser656Phe | |
| NM_173159.3:c.2024C>T | NP_775182.1:p.Ser675Phe | |
| NM_001394988.1:c.2018C>T | NP_001381917.1:p.Ser673Phe | |
| NM_001394989.1:c.1964C>T | NP_001381918.1:p.Ser655Phe |