Linked Data
ClinVar Variation Id:
459584
dbSNP Id:
rs782343800
ExAC:
X:153993177 T / C
gnomAD v2:
X-153993177-T-C
gnomAD v4:
X-154764902-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154764902T>C , CM000685.2:g.154764902T>C | GRCh38 |
| NC_000023.10:g.153993177T>C , CM000685.1:g.153993177T>C | GRCh37 |
| NC_000023.9:g.153646371T>C | NCBI36 |
| NG_009780.1:g.7147T>C , LRG_55:g.7147T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.20T>C | ENSP00000400542.2:p.Ile7Thr | |
| ENST00000426673.6:c.20T>C | ENSP00000407253.3:p.Ile7Thr | |
| ENST00000696575.1:c.20T>C | ENSP00000512730.1:p.Ile7Thr | |
| ENST00000696576.1:n.122T>C | ||
| ENST00000696577.1:c.20T>C | ENSP00000512731.1:p.Ile7Thr | |
| ENST00000696578.1:c.20T>C | ENSP00000512732.1:p.Ile7Thr | |
| ENST00000696579.1:n.122T>C | ||
| ENST00000696580.1:c.20T>C | ENSP00000512733.1:p.Ile7Thr | |
| ENST00000696581.1:c.20T>C | ENSP00000512734.1:p.Ile7Thr | |
| ENST00000696582.1:c.20T>C | ENSP00000512735.1:p.Ile7Thr | |
| ENST00000696583.1:c.20T>C | ENSP00000512736.1:p.Ile7Thr | |
| ENST00000696584.1:n.67T>C | ||
| ENST00000696585.1:n.67T>C | ||
| ENST00000696586.1:n.67T>C | ||
| ENST00000696587.1:c.20T>C | ENSP00000512737.1:p.Ile7Thr | |
| ENST00000696588.1:c.-1067T>C | ENSP00000513251.1:n.-1067T>C | |
| ENST00000696627.1:c.20T>C | ENSP00000512764.1:p.Ile7Thr | |
| ENST00000696628.1:c.20T>C | ENSP00000512765.1:p.Ile7Thr | |
| ENST00000369550.10:c.20T>C MANE Select | ENSP00000358563.5:p.Ile7Thr | |
| ENST00000369550.9:c.20T>C | ENSP00000358563.5:p.Ile7Thr | |
| ENST00000413910.5:c.20T>C | ENSP00000400542.1:p.Ile7Thr | |
| ENST00000473552.1:n.73T>C | ||
| ENST00000475423.1:n.134T>C | ||
| ENST00000620277.4:c.20T>C | ENSP00000478387.1:p.Ile7Thr | |
| NM_001142463.2:c.20T>C | NP_001135935.1:p.Ile7Thr | |
| NM_001288747.1:c.20T>C | NP_001275676.1:p.Ile7Thr | |
| NM_001363.4:c.20T>C | NP_001354.1:p.Ile7Thr | |
| NR_110021.1:n.244T>C | ||
| NR_110022.1:n.244T>C | ||
| NR_110023.1:n.244T>C | ||
| NM_001363.5:c.20T>C MANE Select | NP_001354.1:p.Ile7Thr | |
| NM_001142463.3:c.20T>C | NP_001135935.1:p.Ile7Thr | |
| NR_110021.2:n.122T>C | ||
| NR_110022.2:n.122T>C | ||
| NR_110023.2:n.122T>C | ||
| NM_001288747.2:c.20T>C | NP_001275676.1:p.Ile7Thr |