Linked Data
dbSNP Id:
rs1018817567
gnomAD v2:
4-68797971-C-T
gnomAD v3:
4-67932253-C-T
gnomAD v4:
4-67932253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67932253C>T , CM000666.2:g.67932253C>T | GRCh38 |
| NC_000004.11:g.68797971C>T , CM000666.1:g.68797971C>T | GRCh37 |
| NC_000004.10:g.68480566C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.253-193G>A MANE Select | ENSP00000426911.2:n.253-193G>A | |
| ENST00000334830.11:c.262-193G>A | ENSP00000334611.7:n.262-193G>A | |
| ENST00000396188.3:c.253-193G>A | ENSP00000379491.3:n.253-193G>A | |
| ENST00000508048.5:c.253-193G>A | ENSP00000426911.2:n.253-193G>A | |
| ENST00000513536.5:c.193-193G>A | ENSP00000427621.1:n.193-193G>A | |
| NM_001114387.1:c.253-193G>A | NP_001107859.1:n.253-193G>A | |
| NM_182606.3:c.262-193G>A | NP_872412.3:n.262-193G>A | |
| NM_001114387.2:c.253-193G>A MANE Select | NP_001107859.1:n.253-193G>A | |
| NM_182606.4:c.262-193G>A | NP_872412.3:n.262-193G>A |