Linked Data
dbSNP Id:
rs192310611
ExAC:
X:154001400 C / T
gnomAD v2:
X-154001400-C-T
gnomAD v3:
X-154773125-C-T
gnomAD v4:
X-154773125-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154773125C>T , CM000685.2:g.154773125C>T | GRCh38 |
| NC_000023.10:g.154001400C>T , CM000685.1:g.154001400C>T | GRCh37 |
| NC_000023.9:g.153654594C>T | NCBI36 |
| NG_009780.1:g.15370C>T , LRG_55:g.15370C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.917-6C>T | ENSP00000400542.2:n.917-6C>T | |
| ENST00000426673.6:c.*420-6C>T | ENSP00000407253.3:n.*420-6C>T | |
| ENST00000484317.6:n.822-6C>T | ||
| ENST00000696575.1:c.1037-6C>T | ENSP00000512730.1:n.1037-6C>T | |
| ENST00000696577.1:c.1037-6C>T | ENSP00000512731.1:n.1037-6C>T | |
| ENST00000696578.1:c.916-6C>T | ENSP00000512732.1:n.916-6C>T | |
| ENST00000696579.1:n.1139-6C>T | ||
| ENST00000696580.1:c.950-6C>T | ENSP00000512733.1:n.950-6C>T | |
| ENST00000696581.1:c.*1011-6C>T | ENSP00000512734.1:n.*1011-6C>T | |
| ENST00000696582.1:c.*243-6C>T | ENSP00000512735.1:n.*243-6C>T | |
| ENST00000696583.1:c.998-6C>T | ENSP00000512736.1:n.998-6C>T | |
| ENST00000696584.1:n.1561-6C>T | ||
| ENST00000696585.1:n.1680-6C>T | ||
| ENST00000696586.1:n.1454-6C>T | ||
| ENST00000696587.1:c.917-6C>T | ENSP00000512737.1:n.917-6C>T | |
| ENST00000696588.1:c.428-6C>T | ENSP00000513251.1:n.428-6C>T | |
| ENST00000696589.1:n.812-6C>T | ||
| ENST00000696590.1:n.661-6C>T | ||
| ENST00000696591.1:n.386-6C>T | ||
| ENST00000696592.1:n.1910C>T | ||
| ENST00000696627.1:c.1037-6C>T | ENSP00000512764.1:n.1037-6C>T | |
| ENST00000696628.1:c.1037-6C>T | ENSP00000512765.1:n.1037-6C>T | |
| ENST00000369550.10:c.1037-6C>T MANE Select | ENSP00000358563.5:n.1037-6C>T | |
| ENST00000369550.9:c.1037-6C>T | ENSP00000358563.5:n.1037-6C>T | |
| ENST00000412124.5:c.295-6C>T | ||
| ENST00000426673.5:c.397-6C>T | ||
| ENST00000475966.1:n.526-6C>T | ||
| ENST00000620277.4:c.1037-6C>T | ENSP00000478387.1:n.1037-6C>T | |
| NM_001142463.2:c.1037-6C>T | NP_001135935.1:n.1037-6C>T | |
| NM_001288747.1:c.1037-6C>T | NP_001275676.1:n.1037-6C>T | |
| NM_001363.4:c.1037-6C>T | NP_001354.1:n.1037-6C>T | |
| NR_110021.1:n.1738-6C>T | ||
| NR_110022.1:n.1857-6C>T | ||
| NR_110023.1:n.1631-6C>T | ||
| NM_001363.5:c.1037-6C>T MANE Select | NP_001354.1:n.1037-6C>T | |
| NM_001142463.3:c.1037-6C>T | NP_001135935.1:n.1037-6C>T | |
| NR_110021.2:n.1616-6C>T | ||
| NR_110022.2:n.1735-6C>T | ||
| NR_110023.2:n.1509-6C>T | ||
| NM_001288747.2:c.1037-6C>T | NP_001275676.1:n.1037-6C>T |