Linked Data
dbSNP Id:
rs879110032
gnomAD v2:
4-46995093-G-A
gnomAD v3:
4-46993076-G-A
gnomAD v4:
4-46993076-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46993076G>A , CM000666.2:g.46993076G>A | GRCh38 |
| NC_000004.11:g.46995093G>A , CM000666.1:g.46995093G>A | GRCh37 |
| NC_000004.10:g.46689850G>A | NCBI36 |
| NG_011809.1:g.5488C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.87-130C>T MANE Select | ENSP00000264318.3:n.87-130C>T | |
| ENST00000264318.3:c.87-130C>T | ENSP00000264318.3:n.87-130C>T | |
| ENST00000502874.1:c.86+263C>T | ENSP00000424386.1:n.86+263C>T | |
| ENST00000508560.5:c.19-130C>T | ENSP00000425445.1:n.19-130C>T | |
| ENST00000509316.1:n.211-130C>T | ||
| ENST00000511523.5:c.19-130C>T | ENSP00000422152.1:n.19-130C>T | |
| NM_000809.3:c.87-130C>T | NP_000800.2:n.87-130C>T | |
| NM_001204266.1:c.30-130C>T | NP_001191195.1:n.30-130C>T | |
| NM_001204267.1:c.30-130C>T | NP_001191196.1:n.30-130C>T | |
| XM_011513677.1:c.87-130C>T | XP_011511979.1:n.87-130C>T | |
| NM_000809.4:c.87-130C>T MANE Select | NP_000800.2:n.87-130C>T | |
| NM_001204266.2:c.30-130C>T | NP_001191195.1:n.30-130C>T | |
| NM_001204267.2:c.30-130C>T | NP_001191196.1:n.30-130C>T |