Linked Data
dbSNP Id:
rs1557265082
gnomAD v2:
X-154001223-G-A
gnomAD v3:
X-154772948-G-A
gnomAD v4:
X-154772948-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154772948G>A , CM000685.2:g.154772948G>A | GRCh38 |
| NC_000023.10:g.154001223G>A , CM000685.1:g.154001223G>A | GRCh37 |
| NC_000023.9:g.153654417G>A | NCBI36 |
| NG_009780.1:g.15193G>A , LRG_55:g.15193G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.917-183G>A | ENSP00000400542.2:n.917-183G>A | |
| ENST00000426673.6:c.*420-183G>A | ENSP00000407253.3:n.*420-183G>A | |
| ENST00000484317.6:n.822-183G>A | ||
| ENST00000696575.1:c.1037-183G>A | ENSP00000512730.1:n.1037-183G>A | |
| ENST00000696577.1:c.1037-183G>A | ENSP00000512731.1:n.1037-183G>A | |
| ENST00000696578.1:c.916-183G>A | ENSP00000512732.1:n.916-183G>A | |
| ENST00000696579.1:n.1139-183G>A | ||
| ENST00000696580.1:c.950-183G>A | ENSP00000512733.1:n.950-183G>A | |
| ENST00000696581.1:c.*1011-183G>A | ENSP00000512734.1:n.*1011-183G>A | |
| ENST00000696582.1:c.*243-183G>A | ENSP00000512735.1:n.*243-183G>A | |
| ENST00000696583.1:c.998-183G>A | ENSP00000512736.1:n.998-183G>A | |
| ENST00000696584.1:n.1561-183G>A | ||
| ENST00000696585.1:n.1680-183G>A | ||
| ENST00000696586.1:n.1454-183G>A | ||
| ENST00000696587.1:c.917-183G>A | ENSP00000512737.1:n.917-183G>A | |
| ENST00000696588.1:c.428-183G>A | ENSP00000513251.1:n.428-183G>A | |
| ENST00000696589.1:n.812-183G>A | ||
| ENST00000696590.1:n.661-183G>A | ||
| ENST00000696591.1:n.386-183G>A | ||
| ENST00000696592.1:n.1733G>A | ||
| ENST00000696627.1:c.1037-183G>A | ENSP00000512764.1:n.1037-183G>A | |
| ENST00000696628.1:c.1037-183G>A | ENSP00000512765.1:n.1037-183G>A | |
| ENST00000369550.10:c.1037-183G>A MANE Select | ENSP00000358563.5:n.1037-183G>A | |
| ENST00000369550.9:c.1037-183G>A | ENSP00000358563.5:n.1037-183G>A | |
| ENST00000412124.5:c.295-183G>A | ||
| ENST00000426673.5:c.397-183G>A | ||
| ENST00000475966.1:n.526-183G>A | ||
| ENST00000620277.4:c.1037-183G>A | ENSP00000478387.1:n.1037-183G>A | |
| NM_001142463.2:c.1037-183G>A | NP_001135935.1:n.1037-183G>A | |
| NM_001288747.1:c.1037-183G>A | NP_001275676.1:n.1037-183G>A | |
| NM_001363.4:c.1037-183G>A | NP_001354.1:n.1037-183G>A | |
| NR_110021.1:n.1738-183G>A | ||
| NR_110022.1:n.1857-183G>A | ||
| NR_110023.1:n.1631-183G>A | ||
| NM_001363.5:c.1037-183G>A MANE Select | NP_001354.1:n.1037-183G>A | |
| NM_001142463.3:c.1037-183G>A | NP_001135935.1:n.1037-183G>A | |
| NR_110021.2:n.1616-183G>A | ||
| NR_110022.2:n.1735-183G>A | ||
| NR_110023.2:n.1509-183G>A | ||
| NM_001288747.2:c.1037-183G>A | NP_001275676.1:n.1037-183G>A |