Linked Data
ClinVar Variation Id:
2663878
ClinVar RCV Id:
RCV003444145
gnomAD v3:
X-41345322-C-T
gnomAD v4:
X-41345322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41345322C>T , CM000685.2:g.41345322C>T | GRCh38 |
| NC_000023.10:g.41204575C>T , CM000685.1:g.41204575C>T | GRCh37 |
| NC_000023.9:g.41089519C>T | NCBI36 |
| NG_012830.1:g.16925C>T | |
| NG_012830.2:g.16925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1300C>T | ENSP00000496052.2:p.Gln434Ter | |
| ENST00000399959.7:c.1165C>T | ENSP00000382840.3:p.Gln389Ter | |
| ENST00000441189.4:c.1069C>T | ENSP00000414281.3:p.Gln357Ter | |
| ENST00000457138.7:c.1120C>T | ENSP00000392494.2:p.Gln374Ter | |
| ENST00000629496.3:c.1168C>T | ENSP00000487224.1:p.Gln390Ter | |
| ENST00000642161.1:n.3367C>T | ||
| ENST00000642322.1:c.610C>T | ENSP00000496052.1:p.Gln204Ter | |
| ENST00000642424.1:c.610C>T | ENSP00000496356.1:p.Gln204Ter | |
| ENST00000642589.1:n.4490C>T | ||
| ENST00000642597.1:n.1342C>T | ||
| ENST00000642687.1:n.1201C>T | ||
| ENST00000642722.1:n.2001C>T | ||
| ENST00000642763.1:n.2059C>T | ||
| ENST00000642793.1:c.*617C>T | ENSP00000493976.1:n.*617C>T | |
| ENST00000642801.1:n.817C>T | ||
| ENST00000643820.1:n.444C>T | ||
| ENST00000643963.1:c.*450C>T | ENSP00000495264.1:n.*450C>T | |
| ENST00000644073.1:c.1126C>T | ENSP00000493475.1:p.Gln376Ter | |
| ENST00000644074.1:c.1165C>T | ENSP00000496663.1:p.Gln389Ter | |
| ENST00000644109.1:c.1330C>T | ENSP00000494952.1:p.Gln444Ter | |
| ENST00000644307.1:n.1259C>T | ||
| ENST00000644513.1:c.1168C>T | ENSP00000493819.1:p.Gln390Ter | |
| ENST00000644677.1:c.1051C>T | ENSP00000496524.1:p.Gln351Ter | |
| ENST00000644876.2:c.1168C>T MANE Select | ENSP00000494040.1:p.Gln390Ter | |
| ENST00000644958.1:n.2829C>T | ||
| ENST00000645080.1:c.*2390C>T | ENSP00000494767.1:n.*2390C>T | |
| ENST00000645120.1:n.2663C>T | ||
| ENST00000645338.1:n.1259C>T | ||
| ENST00000645380.1:n.2553C>T | ||
| ENST00000645561.1:n.2344C>T | ||
| ENST00000645574.1:n.4032C>T | ||
| ENST00000645589.1:c.1168C>T | ENSP00000494588.1:p.Gln390Ter | |
| ENST00000646093.1:n.352C>T | ||
| ENST00000646107.1:c.1051C>T | ENSP00000494518.1:p.Gln351Ter | |
| ENST00000646122.1:c.1168C>T | ENSP00000496222.1:p.Gln390Ter | |
| ENST00000646196.1:n.2137C>T | ||
| ENST00000646223.1:c.*1161C>T | ENSP00000496043.1:n.*1161C>T | |
| ENST00000646319.1:c.1168C>T | ENSP00000495377.1:p.Gln390Ter | |
| ENST00000646390.1:n.3456C>T | ||
| ENST00000646627.1:c.610C>T | ENSP00000493795.1:p.Gln204Ter | |
| ENST00000646679.1:c.610C>T | ENSP00000494887.1:p.Gln204Ter | |
| ENST00000646822.1:n.2230C>T | ||
| ENST00000646940.1:n.1342C>T | ||
| ENST00000647286.1:n.1266C>T | ||
| ENST00000399959.6:c.1168C>T | ENSP00000382840.2:p.Gln390Ter | |
| ENST00000441189.3:c.341-2318C>T | ENSP00000414281.2:n.341-2318C>T | |
| ENST00000457138.6:c.1120C>T | ENSP00000392494.2:p.Gln374Ter | |
| ENST00000478993.5:c.1168C>T | ENSP00000478443.1:p.Gln390Ter | |
| ENST00000542215.5:n.1216C>T | ||
| ENST00000625837.2:c.1168C>T | ENSP00000486306.1:p.Gln390Ter | |
| ENST00000626301.2:c.1168C>T | ENSP00000486443.1:p.Gln390Ter | |
| ENST00000629496.2:c.1168C>T | ENSP00000487224.1:p.Gln390Ter | |
| ENST00000629785.2:c.1168C>T | ENSP00000486516.1:p.Gln390Ter | |
| ENST00000630255.2:c.1168C>T | ENSP00000486720.1:p.Gln390Ter | |
| ENST00000630370.2:c.1168C>T | ENSP00000487062.1:p.Gln390Ter | |
| ENST00000630858.2:c.1168C>T | ENSP00000486514.1:p.Gln390Ter | |
| NM_001193416.2:c.1168C>T | NP_001180345.1:p.Gln390Ter | |
| NM_001193417.2:c.1120C>T | NP_001180346.1:p.Gln374Ter | |
| NM_001356.4:c.1168C>T | NP_001347.3:p.Gln390Ter | |
| NR_126093.1:n.2113C>T | ||
| XM_011543892.1:c.1168C>T | XP_011542194.1:p.Gln390Ter | |
| NM_001363819.1:c.610C>T | NP_001350748.1:p.Gln204Ter | |
| XM_011543892.2:c.1168C>T | XP_011542194.1:p.Gln390Ter | |
| XM_017029313.1:c.610C>T | XP_016884802.1:p.Gln204Ter | |
| NM_001193416.3:c.1168C>T | NP_001180345.1:p.Gln390Ter | |
| NM_001193417.3:c.1120C>T | NP_001180346.1:p.Gln374Ter | |
| NM_001356.5:c.1168C>T MANE Select | NP_001347.3:p.Gln390Ter |