Linked Data
dbSNP Id:
rs200427211
ExAC:
X:41205659 C / A
gnomAD v2:
X-41205659-C-A
gnomAD v4:
X-41346406-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41346406C>A , CM000685.2:g.41346406C>A | GRCh38 |
| NC_000023.10:g.41205659C>A , CM000685.1:g.41205659C>A | GRCh37 |
| NC_000023.9:g.41090603C>A | NCBI36 |
| NG_012830.1:g.18009C>A | |
| NG_012830.2:g.18009C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642322.2:c.1625C>A | ENSP00000496052.2:p.Thr542Lys | |
| ENST00000399959.7:c.1490C>A | ENSP00000382840.3:p.Thr497Lys | |
| ENST00000441189.4:c.1394C>A | ENSP00000414281.3:p.Thr465Lys | |
| ENST00000457138.7:c.1445C>A | ENSP00000392494.2:p.Thr482Lys | |
| ENST00000611968.2:c.87C>A | ||
| ENST00000616050.3:c.241C>A | ||
| ENST00000629496.3:c.1493C>A | ENSP00000487224.1:p.Thr498Lys | |
| ENST00000642161.1:n.3692C>A | ||
| ENST00000642322.1:c.935C>A | ENSP00000496052.1:p.Thr312Lys | |
| ENST00000642424.1:c.935C>A | ENSP00000496356.1:p.Thr312Lys | |
| ENST00000642589.1:n.4815C>A | ||
| ENST00000642597.1:n.1667C>A | ||
| ENST00000642687.1:n.1526C>A | ||
| ENST00000642722.1:n.2326C>A | ||
| ENST00000642763.1:n.2384C>A | ||
| ENST00000642793.1:c.*942C>A | ENSP00000493976.1:n.*942C>A | |
| ENST00000642801.1:n.1142C>A | ||
| ENST00000643820.1:n.769C>A | ||
| ENST00000643963.1:c.*775C>A | ENSP00000495264.1:n.*775C>A | |
| ENST00000644073.1:c.1451C>A | ENSP00000493475.1:p.Thr484Lys | |
| ENST00000644074.1:c.1490C>A | ENSP00000496663.1:p.Thr497Lys | |
| ENST00000644109.1:c.1655C>A | ENSP00000494952.1:p.Thr552Lys | |
| ENST00000644307.1:n.1663C>A | ||
| ENST00000644513.1:c.1493C>A | ENSP00000493819.1:p.Thr498Lys | |
| ENST00000644677.1:c.1376C>A | ENSP00000496524.1:p.Thr459Lys | |
| ENST00000644876.2:c.1493C>A MANE Select | ENSP00000494040.1:p.Thr498Lys | |
| ENST00000644958.1:n.3154C>A | ||
| ENST00000645080.1:c.*2715C>A | ENSP00000494767.1:n.*2715C>A | |
| ENST00000645120.1:n.2988C>A | ||
| ENST00000645338.1:n.1663C>A | ||
| ENST00000645380.1:n.2957C>A | ||
| ENST00000645561.1:n.2669C>A | ||
| ENST00000645574.1:n.4357C>A | ||
| ENST00000645589.1:c.1493C>A | ENSP00000494588.1:p.Thr498Lys | |
| ENST00000646107.1:c.1376C>A | ENSP00000494518.1:p.Thr459Lys | |
| ENST00000646122.1:c.1493C>A | ENSP00000496222.1:p.Thr498Lys | |
| ENST00000646196.1:n.2462C>A | ||
| ENST00000646223.1:c.*1486C>A | ENSP00000496043.1:n.*1486C>A | |
| ENST00000646319.1:c.1493C>A | ENSP00000495377.1:p.Thr498Lys | |
| ENST00000646390.1:n.3781C>A | ||
| ENST00000646627.1:c.935C>A | ENSP00000493795.1:p.Thr312Lys | |
| ENST00000646679.1:c.935C>A | ENSP00000494887.1:p.Thr312Lys | |
| ENST00000646822.1:n.2555C>A | ||
| ENST00000646940.1:n.1667C>A | ||
| ENST00000647286.1:n.1591C>A | ||
| ENST00000647477.1:n.232C>A | ||
| ENST00000399959.6:c.1493C>A | ENSP00000382840.2:p.Thr498Lys | |
| ENST00000441189.3:c.341-1234C>A | ENSP00000414281.2:n.341-1234C>A | |
| ENST00000457138.6:c.1445C>A | ENSP00000392494.2:p.Thr482Lys | |
| ENST00000478993.5:c.1493C>A | ENSP00000478443.1:p.Thr498Lys | |
| ENST00000542215.5:n.1541C>A | ||
| ENST00000616050.2:c.46C>A | ||
| ENST00000625837.2:c.1493C>A | ENSP00000486306.1:p.Thr498Lys | |
| ENST00000626301.2:c.1493C>A | ENSP00000486443.1:p.Thr498Lys | |
| ENST00000629496.2:c.1493C>A | ENSP00000487224.1:p.Thr498Lys | |
| ENST00000629785.2:c.1493C>A | ENSP00000486516.1:p.Thr498Lys | |
| ENST00000630255.2:c.1493C>A | ENSP00000486720.1:p.Thr498Lys | |
| ENST00000630370.2:c.1493C>A | ENSP00000487062.1:p.Thr498Lys | |
| ENST00000630858.2:c.1493C>A | ENSP00000486514.1:p.Thr498Lys | |
| NM_001193416.2:c.1493C>A | NP_001180345.1:p.Thr498Lys | |
| NM_001193417.2:c.1445C>A | NP_001180346.1:p.Thr482Lys | |
| NM_001356.4:c.1493C>A | NP_001347.3:p.Thr498Lys | |
| NR_126093.1:n.2438C>A | ||
| XM_011543892.1:c.1493C>A | XP_011542194.1:p.Thr498Lys | |
| NM_001363819.1:c.935C>A | NP_001350748.1:p.Thr312Lys | |
| XM_011543892.2:c.1493C>A | XP_011542194.1:p.Thr498Lys | |
| XM_017029313.1:c.935C>A | XP_016884802.1:p.Thr312Lys | |
| NM_001193416.3:c.1493C>A | NP_001180345.1:p.Thr498Lys | |
| NM_001193417.3:c.1445C>A | NP_001180346.1:p.Thr482Lys | |
| NM_001356.5:c.1493C>A MANE Select | NP_001347.3:p.Thr498Lys |