Linked Data
dbSNP Id:
rs185523652
gnomAD v2:
4-46995131-C-T
gnomAD v3:
4-46993114-C-T
gnomAD v4:
4-46993114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46993114C>T , CM000666.2:g.46993114C>T | GRCh38 |
| NC_000004.11:g.46995131C>T , CM000666.1:g.46995131C>T | GRCh37 |
| NC_000004.10:g.46689888C>T | NCBI36 |
| NG_011809.1:g.5450G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.87-168G>A MANE Select | ENSP00000264318.3:n.87-168G>A | |
| ENST00000264318.3:c.87-168G>A | ENSP00000264318.3:n.87-168G>A | |
| ENST00000502874.1:c.86+225G>A | ENSP00000424386.1:n.86+225G>A | |
| ENST00000508560.5:c.19-168G>A | ENSP00000425445.1:n.19-168G>A | |
| ENST00000509316.1:n.211-168G>A | ||
| ENST00000511523.5:c.19-168G>A | ENSP00000422152.1:n.19-168G>A | |
| NM_000809.3:c.87-168G>A | NP_000800.2:n.87-168G>A | |
| NM_001204266.1:c.30-168G>A | NP_001191195.1:n.30-168G>A | |
| NM_001204267.1:c.30-168G>A | NP_001191196.1:n.30-168G>A | |
| XM_011513677.1:c.87-168G>A | XP_011511979.1:n.87-168G>A | |
| NM_000809.4:c.87-168G>A MANE Select | NP_000800.2:n.87-168G>A | |
| NM_001204266.2:c.30-168G>A | NP_001191195.1:n.30-168G>A | |
| NM_001204267.2:c.30-168G>A | NP_001191196.1:n.30-168G>A |