Linked Data
ClinVar Variation Id:
3006102
ClinVar RCV Id:
RCV003866253
dbSNP Id:
rs773682421
ExAC:
X:41204541 T / C
gnomAD v2:
X-41204541-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41345288T>C , CM000685.2:g.41345288T>C | GRCh38 |
| NC_000023.10:g.41204541T>C , CM000685.1:g.41204541T>C | GRCh37 |
| NC_000023.9:g.41089485T>C | NCBI36 |
| NG_012830.1:g.16891T>C | |
| NG_012830.2:g.16891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1266T>C | ENSP00000496052.2:p.Thr422= | |
| ENST00000399959.7:c.1131T>C | ENSP00000382840.3:p.Thr377= | |
| ENST00000441189.4:c.1035T>C | ENSP00000414281.3:p.Thr345= | |
| ENST00000457138.7:c.1086T>C | ENSP00000392494.2:p.Thr362= | |
| ENST00000629496.3:c.1134T>C | ENSP00000487224.1:p.Thr378= | |
| ENST00000642161.1:n.3333T>C | ||
| ENST00000642322.1:c.576T>C | ENSP00000496052.1:p.Thr192= | |
| ENST00000642424.1:c.576T>C | ENSP00000496356.1:p.Thr192= | |
| ENST00000642589.1:n.4456T>C | ||
| ENST00000642597.1:n.1308T>C | ||
| ENST00000642687.1:n.1167T>C | ||
| ENST00000642722.1:n.1967T>C | ||
| ENST00000642763.1:n.2025T>C | ||
| ENST00000642793.1:c.*583T>C | ENSP00000493976.1:n.*583T>C | |
| ENST00000642801.1:n.783T>C | ||
| ENST00000643820.1:n.410T>C | ||
| ENST00000643963.1:c.*416T>C | ENSP00000495264.1:n.*416T>C | |
| ENST00000644073.1:c.1092T>C | ENSP00000493475.1:p.Thr364= | |
| ENST00000644074.1:c.1131T>C | ENSP00000496663.1:p.Thr377= | |
| ENST00000644109.1:c.1296T>C | ENSP00000494952.1:p.Thr432= | |
| ENST00000644307.1:n.1225T>C | ||
| ENST00000644513.1:c.1134T>C | ENSP00000493819.1:p.Thr378= | |
| ENST00000644677.1:c.1017T>C | ENSP00000496524.1:p.Thr339= | |
| ENST00000644876.2:c.1134T>C MANE Select | ENSP00000494040.1:p.Thr378= | |
| ENST00000644958.1:n.2795T>C | ||
| ENST00000645080.1:c.*2356T>C | ENSP00000494767.1:n.*2356T>C | |
| ENST00000645120.1:n.2629T>C | ||
| ENST00000645338.1:n.1225T>C | ||
| ENST00000645380.1:n.2519T>C | ||
| ENST00000645561.1:n.2310T>C | ||
| ENST00000645574.1:n.3998T>C | ||
| ENST00000645589.1:c.1134T>C | ENSP00000494588.1:p.Thr378= | |
| ENST00000646093.1:n.318T>C | ||
| ENST00000646107.1:c.1017T>C | ENSP00000494518.1:p.Thr339= | |
| ENST00000646122.1:c.1134T>C | ENSP00000496222.1:p.Thr378= | |
| ENST00000646196.1:n.2103T>C | ||
| ENST00000646223.1:c.*1127T>C | ENSP00000496043.1:n.*1127T>C | |
| ENST00000646319.1:c.1134T>C | ENSP00000495377.1:p.Thr378= | |
| ENST00000646390.1:n.3422T>C | ||
| ENST00000646627.1:c.576T>C | ENSP00000493795.1:p.Thr192= | |
| ENST00000646679.1:c.576T>C | ENSP00000494887.1:p.Thr192= | |
| ENST00000646822.1:n.2196T>C | ||
| ENST00000646940.1:n.1308T>C | ||
| ENST00000647286.1:n.1232T>C | ||
| ENST00000399959.6:c.1134T>C | ENSP00000382840.2:p.Thr378= | |
| ENST00000441189.3:c.341-2352T>C | ENSP00000414281.2:n.341-2352T>C | |
| ENST00000457138.6:c.1086T>C | ENSP00000392494.2:p.Thr362= | |
| ENST00000478993.5:c.1134T>C | ENSP00000478443.1:p.Thr378= | |
| ENST00000542215.5:n.1182T>C | ||
| ENST00000625837.2:c.1134T>C | ENSP00000486306.1:p.Thr378= | |
| ENST00000626301.2:c.1134T>C | ENSP00000486443.1:p.Thr378= | |
| ENST00000629496.2:c.1134T>C | ENSP00000487224.1:p.Thr378= | |
| ENST00000629785.2:c.1134T>C | ENSP00000486516.1:p.Thr378= | |
| ENST00000630255.2:c.1134T>C | ENSP00000486720.1:p.Thr378= | |
| ENST00000630370.2:c.1134T>C | ENSP00000487062.1:p.Thr378= | |
| ENST00000630858.2:c.1134T>C | ENSP00000486514.1:p.Thr378= | |
| NM_001193416.2:c.1134T>C | NP_001180345.1:p.Thr378= | |
| NM_001193417.2:c.1086T>C | NP_001180346.1:p.Thr362= | |
| NM_001356.4:c.1134T>C | NP_001347.3:p.Thr378= | |
| NR_126093.1:n.2079T>C | ||
| XM_011543892.1:c.1134T>C | XP_011542194.1:p.Thr378= | |
| NM_001363819.1:c.576T>C | NP_001350748.1:p.Thr192= | |
| XM_011543892.2:c.1134T>C | XP_011542194.1:p.Thr378= | |
| XM_017029313.1:c.576T>C | XP_016884802.1:p.Thr192= | |
| NM_001193416.3:c.1134T>C | NP_001180345.1:p.Thr378= | |
| NM_001193417.3:c.1086T>C | NP_001180346.1:p.Thr362= | |
| NM_001356.5:c.1134T>C MANE Select | NP_001347.3:p.Thr378= |