Linked Data
dbSNP Id:
rs1384291211
gnomAD v2:
14-34269378-G-C
gnomAD v3:
14-33800172-G-C
gnomAD v4:
14-33800172-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800172G>C , CM000676.2:g.33800172G>C | GRCh38 |
| NC_000014.8:g.34269378G>C , CM000676.1:g.34269378G>C | GRCh37 |
| NC_000014.7:g.33339129G>C | NCBI36 |
| NG_013036.1:g.865920G>C | |
| NG_013036.2:g.865920G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1865G>C MANE Select | ENSP00000348460.4:p.Ser622Thr | |
| ENST00000551634.6:c.1874G>C | ENSP00000448373.2:p.Ser625Thr | |
| ENST00000680362.1:c.1765G>C | ||
| ENST00000681323.1:c.793+2591G>C | ||
| ENST00000346562.6:c.1769G>C | ENSP00000319610.5:p.Ser590Thr | |
| ENST00000356141.8:c.1865G>C | ENSP00000348460.4:p.Ser622Thr | |
| ENST00000357798.9:c.1826G>C | ENSP00000350446.5:p.Ser609Thr | |
| ENST00000548645.5:c.1775G>C | ENSP00000448916.1:p.Ser592Thr | |
| ENST00000551492.5:c.1880G>C | ENSP00000450392.1:p.Ser627Thr | |
| ENST00000551634.5:c.1787G>C | ENSP00000448373.1:p.Ser596Thr | |
| NM_001164749.1:c.1865G>C | NP_001158221.1:p.Ser622Thr | |
| NM_001165893.1:c.1775G>C | NP_001159365.1:p.Ser592Thr | |
| NM_022123.2:c.1769G>C | NP_071406.1:p.Ser590Thr | |
| NM_173159.2:c.1826G>C | NP_775182.1:p.Ser609Thr | |
| XM_005267991.2:c.1886G>C | XP_005268048.1:p.Ser629Thr | |
| XM_005267992.2:c.1880G>C | XP_005268049.1:p.Ser627Thr | |
| XM_005267993.2:c.1826G>C | XP_005268050.1:p.Ser609Thr | |
| XM_011537067.1:c.1916G>C | XP_011535369.1:p.Ser639Thr | |
| XM_011537068.1:c.1907G>C | XP_011535370.1:p.Ser636Thr | |
| XM_011537069.1:c.1877G>C | XP_011535371.1:p.Ser626Thr | |
| XM_011537070.1:c.1820G>C | XP_011535372.1:p.Ser607Thr | |
| XM_011537071.1:c.1787G>C | XP_011535373.1:p.Ser596Thr | |
| XM_011537072.1:c.1766G>C | XP_011535374.1:p.Ser589Thr | |
| XM_011537073.1:c.1559G>C | XP_011535375.1:p.Ser520Thr | |
| XM_011537074.1:c.1559G>C | XP_011535376.1:p.Ser520Thr | |
| XM_005267991.3:c.1973G>C | XP_005268048.2:p.Ser658Thr | |
| XM_005267992.3:c.1967G>C | XP_005268049.2:p.Ser656Thr | |
| XM_011537067.2:c.1916G>C | XP_011535369.1:p.Ser639Thr | |
| XM_011537069.2:c.1964G>C | XP_011535371.2:p.Ser655Thr | |
| XM_011537070.2:c.1820G>C | XP_011535372.1:p.Ser607Thr | |
| XM_011537071.2:c.1874G>C | XP_011535373.2:p.Ser625Thr | |
| XM_011537072.2:c.1766G>C | XP_011535374.1:p.Ser589Thr | |
| XM_017021582.1:c.2024G>C | XP_016877071.1:p.Ser675Thr | |
| XM_017021583.1:c.2015G>C | XP_016877072.1:p.Ser672Thr | |
| XM_017021584.1:c.1934G>C | XP_016877073.1:p.Ser645Thr | |
| XM_017021585.1:c.1883G>C | XP_016877074.1:p.Ser628Thr | |
| XM_017021586.1:c.1559G>C | XP_016877075.1:p.Ser520Thr | |
| XM_017021587.1:c.1559G>C | XP_016877076.1:p.Ser520Thr | |
| XM_017021588.1:c.1559G>C | XP_016877077.1:p.Ser520Thr | |
| NM_001164749.2:c.1865G>C MANE Select | NP_001158221.1:p.Ser622Thr | |
| NM_001165893.2:c.1775G>C | NP_001159365.1:p.Ser592Thr | |
| NM_022123.3:c.1769G>C | NP_071406.1:p.Ser590Thr | |
| NM_173159.3:c.1826G>C | NP_775182.1:p.Ser609Thr | |
| NM_001394988.1:c.1820G>C | NP_001381917.1:p.Ser607Thr | |
| NM_001394989.1:c.1766G>C | NP_001381918.1:p.Ser589Thr |