Linked Data
dbSNP Id:
rs1285185815
gnomAD v2:
14-34269451-C-T
gnomAD v3:
14-33800245-C-T
gnomAD v4:
14-33800245-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800245C>T , CM000676.2:g.33800245C>T | GRCh38 |
| NC_000014.8:g.34269451C>T , CM000676.1:g.34269451C>T | GRCh37 |
| NC_000014.7:g.33339202C>T | NCBI36 |
| NG_013036.1:g.865993C>T | |
| NG_013036.2:g.865993C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1938C>T MANE Select | ENSP00000348460.4:p.Leu646= | |
| ENST00000551634.6:c.1947C>T | ENSP00000448373.2:p.Leu649= | |
| ENST00000680362.1:c.1838C>T | ||
| ENST00000681323.1:c.793+2664C>T | ||
| ENST00000346562.6:c.1842C>T | ENSP00000319610.5:p.Leu614= | |
| ENST00000356141.8:c.1938C>T | ENSP00000348460.4:p.Leu646= | |
| ENST00000357798.9:c.1899C>T | ENSP00000350446.5:p.Leu633= | |
| ENST00000548645.5:c.1848C>T | ENSP00000448916.1:p.Leu616= | |
| ENST00000551492.5:c.1953C>T | ENSP00000450392.1:p.Leu651= | |
| ENST00000551634.5:c.1860C>T | ENSP00000448373.1:p.Leu620= | |
| NM_001164749.1:c.1938C>T | NP_001158221.1:p.Leu646= | |
| NM_001165893.1:c.1848C>T | NP_001159365.1:p.Leu616= | |
| NM_022123.2:c.1842C>T | NP_071406.1:p.Leu614= | |
| NM_173159.2:c.1899C>T | NP_775182.1:p.Leu633= | |
| XM_005267991.2:c.1959C>T | XP_005268048.1:p.Leu653= | |
| XM_005267992.2:c.1953C>T | XP_005268049.1:p.Leu651= | |
| XM_005267993.2:c.1899C>T | XP_005268050.1:p.Leu633= | |
| XM_011537067.1:c.1989C>T | XP_011535369.1:p.Leu663= | |
| XM_011537068.1:c.1980C>T | XP_011535370.1:p.Leu660= | |
| XM_011537069.1:c.1950C>T | XP_011535371.1:p.Leu650= | |
| XM_011537070.1:c.1893C>T | XP_011535372.1:p.Leu631= | |
| XM_011537071.1:c.1860C>T | XP_011535373.1:p.Leu620= | |
| XM_011537072.1:c.1839C>T | XP_011535374.1:p.Leu613= | |
| XM_011537073.1:c.1632C>T | XP_011535375.1:p.Leu544= | |
| XM_011537074.1:c.1632C>T | XP_011535376.1:p.Leu544= | |
| XM_005267991.3:c.2046C>T | XP_005268048.2:p.Leu682= | |
| XM_005267992.3:c.2040C>T | XP_005268049.2:p.Leu680= | |
| XM_011537067.2:c.1989C>T | XP_011535369.1:p.Leu663= | |
| XM_011537069.2:c.2037C>T | XP_011535371.2:p.Leu679= | |
| XM_011537070.2:c.1893C>T | XP_011535372.1:p.Leu631= | |
| XM_011537071.2:c.1947C>T | XP_011535373.2:p.Leu649= | |
| XM_011537072.2:c.1839C>T | XP_011535374.1:p.Leu613= | |
| XM_017021582.1:c.2097C>T | XP_016877071.1:p.Leu699= | |
| XM_017021583.1:c.2088C>T | XP_016877072.1:p.Leu696= | |
| XM_017021584.1:c.2007C>T | XP_016877073.1:p.Leu669= | |
| XM_017021585.1:c.1956C>T | XP_016877074.1:p.Leu652= | |
| XM_017021586.1:c.1632C>T | XP_016877075.1:p.Leu544= | |
| XM_017021587.1:c.1632C>T | XP_016877076.1:p.Leu544= | |
| XM_017021588.1:c.1632C>T | XP_016877077.1:p.Leu544= | |
| NM_001164749.2:c.1938C>T MANE Select | NP_001158221.1:p.Leu646= | |
| NM_001165893.2:c.1848C>T | NP_001159365.1:p.Leu616= | |
| NM_022123.3:c.1842C>T | NP_071406.1:p.Leu614= | |
| NM_173159.3:c.1899C>T | NP_775182.1:p.Leu633= | |
| NM_001394988.1:c.1893C>T | NP_001381917.1:p.Leu631= | |
| NM_001394989.1:c.1839C>T | NP_001381918.1:p.Leu613= |