Linked Data
ClinVar Variation Id:
286707
dbSNP Id:
rs781946802
ExAC:
X:153581548 G / A
gnomAD v2:
X-153581548-G-A
gnomAD v4:
X-154353180-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154353180G>A , CM000685.2:g.154353180G>A | GRCh38 |
| NC_000023.10:g.153581548G>A , CM000685.1:g.153581548G>A | GRCh37 |
| NC_000023.9:g.153234742G>A | NCBI36 |
| NG_011506.1:g.26459C>T | |
| NG_011506.2:g.26459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6023C>T | ENSP00000353467.4:p.Thr2008Met | |
| ENST00000369850.10:c.6047C>T MANE Select | ENSP00000358866.3:p.Thr2016Met | |
| ENST00000369856.8:c.5966C>T | ENSP00000358872.4:p.Thr1989Met | |
| ENST00000422373.6:c.3161-505C>T | ENSP00000416926.2:n.3161-505C>T | |
| ENST00000610817.5:c.6104C>T | ENSP00000480593.2:n.6104C>T | |
| ENST00000673639.2:c.280-4490C>T | ||
| ENST00000676696.1:c.6326C>T | ENSP00000503392.1:n.6326C>T | |
| ENST00000678304.1:n.1226C>T | ||
| ENST00000344736.8:c.5927C>T | ENSP00000358863.3:p.Thr1976Met | |
| ENST00000360319.8:c.6023C>T | ENSP00000353467.4:p.Thr2008Met | |
| ENST00000369850.7:c.6047C>T | ENSP00000358866.3:p.Thr2016Met | |
| ENST00000369856.7:c.5966C>T | ENSP00000358872.4:p.Thr1989Met | |
| ENST00000415241.1:c.249C>T | ||
| ENST00000420627.5:c.6003C>T | ENSP00000408921.1:n.6003C>T | |
| ENST00000422373.5:c.6023C>T | ENSP00000416926.1:p.Thr2008Met | |
| ENST00000466325.1:n.186C>T | ||
| ENST00000490936.5:n.2036C>T | ||
| ENST00000610817.4:c.5844+213C>T | ENSP00000480593.1:n.5844+213C>T | |
| NM_001110556.1:c.6047C>T | NP_001104026.1:p.Thr2016Met | |
| NM_001456.3:c.6023C>T | NP_001447.2:p.Thr2008Met | |
| XM_011531127.1:c.5951C>T | XP_011529429.1:p.Thr1984Met | |
| XM_011531128.1:c.5927C>T | XP_011529430.1:p.Thr1976Met | |
| XM_011531129.1:c.5873C>T | XP_011529431.1:p.Thr1958Met | |
| XM_011531130.1:c.5849C>T | XP_011529432.1:p.Thr1950Met | |
| XM_011531131.1:c.5846C>T | XP_011529433.1:p.Thr1949Met | |
| NM_001110556.2:c.6047C>T MANE Select | NP_001104026.1:p.Thr2016Met | |
| NM_001456.4:c.6023C>T | NP_001447.2:p.Thr2008Met |