Linked Data
ClinVar Variation Id:
1148174
ClinVar RCV Id:
RCV001487919
dbSNP Id:
rs1557264657
gnomAD v2:
X-153997594-C-T
gnomAD v3:
X-154769319-C-T
gnomAD v4:
X-154769319-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154769319C>T , CM000685.2:g.154769319C>T | GRCh38 |
| NC_000023.10:g.153997594C>T , CM000685.1:g.153997594C>T | GRCh37 |
| NC_000023.9:g.153650788C>T | NCBI36 |
| NG_009780.1:g.11564C>T , LRG_55:g.11564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.795+9C>T | ENSP00000400542.2:n.795+9C>T | |
| ENST00000426673.6:c.*298+9C>T | ENSP00000407253.3:n.*298+9C>T | |
| ENST00000484317.6:n.700+9C>T | ||
| ENST00000696575.1:c.915+9C>T | ENSP00000512730.1:n.915+9C>T | |
| ENST00000696576.1:n.1026C>T | ||
| ENST00000696577.1:c.915+9C>T | ENSP00000512731.1:n.915+9C>T | |
| ENST00000696578.1:c.915+9C>T | ENSP00000512732.1:n.915+9C>T | |
| ENST00000696579.1:n.1017+9C>T | ||
| ENST00000696580.1:c.828+9C>T | ENSP00000512733.1:n.828+9C>T | |
| ENST00000696581.1:c.*889+9C>T | ENSP00000512734.1:n.*889+9C>T | |
| ENST00000696582.1:c.*121+9C>T | ENSP00000512735.1:n.*121+9C>T | |
| ENST00000696583.1:c.876+9C>T | ENSP00000512736.1:n.876+9C>T | |
| ENST00000696584.1:n.1439+9C>T | ||
| ENST00000696585.1:n.1558+9C>T | ||
| ENST00000696586.1:n.1332+9C>T | ||
| ENST00000696587.1:c.795+9C>T | ENSP00000512737.1:n.795+9C>T | |
| ENST00000696588.1:c.306+9C>T | ENSP00000513251.1:n.306+9C>T | |
| ENST00000696589.1:n.690+9C>T | ||
| ENST00000696590.1:n.539+9C>T | ||
| ENST00000696591.1:n.264+9C>T | ||
| ENST00000696627.1:c.915+9C>T | ENSP00000512764.1:n.915+9C>T | |
| ENST00000696628.1:c.915+9C>T | ENSP00000512765.1:n.915+9C>T | |
| ENST00000369550.10:c.915+9C>T MANE Select | ENSP00000358563.5:n.915+9C>T | |
| ENST00000369550.9:c.915+9C>T | ENSP00000358563.5:n.915+9C>T | |
| ENST00000412124.5:c.174-1440C>T | ||
| ENST00000426673.5:c.275+9C>T | ||
| ENST00000475966.1:n.404+9C>T | ||
| ENST00000484317.5:n.553+9C>T | ||
| ENST00000620277.4:c.915+9C>T | ENSP00000478387.1:n.915+9C>T | |
| NM_001142463.2:c.915+9C>T | NP_001135935.1:n.915+9C>T | |
| NM_001288747.1:c.915+9C>T | NP_001275676.1:n.915+9C>T | |
| NM_001363.4:c.915+9C>T | NP_001354.1:n.915+9C>T | |
| NR_110021.1:n.1616+9C>T | ||
| NR_110022.1:n.1735+9C>T | ||
| NR_110023.1:n.1509+9C>T | ||
| NM_001363.5:c.915+9C>T MANE Select | NP_001354.1:n.915+9C>T | |
| NM_001142463.3:c.915+9C>T | NP_001135935.1:n.915+9C>T | |
| NR_110021.2:n.1494+9C>T | ||
| NR_110022.2:n.1613+9C>T | ||
| NR_110023.2:n.1387+9C>T | ||
| NM_001288747.2:c.915+9C>T | NP_001275676.1:n.915+9C>T |