Linked Data
dbSNP Id:
rs750970911
ExAC:
4:68797790 C / A
gnomAD v2:
4-68797790-C-A
gnomAD v3:
4-67932072-C-A
gnomAD v4:
4-67932072-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67932072C>A , CM000666.2:g.67932072C>A | GRCh38 |
| NC_000004.11:g.68797790C>A , CM000666.1:g.68797790C>A | GRCh37 |
| NC_000004.10:g.68480385C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.253-12G>T MANE Select | ENSP00000426911.2:n.253-12G>T | |
| ENST00000334830.11:c.262-12G>T | ENSP00000334611.7:n.262-12G>T | |
| ENST00000396188.3:c.253-12G>T | ENSP00000379491.3:n.253-12G>T | |
| ENST00000508048.5:c.253-12G>T | ENSP00000426911.2:n.253-12G>T | |
| ENST00000513536.5:c.193-12G>T | ENSP00000427621.1:n.193-12G>T | |
| NM_001114387.1:c.253-12G>T | NP_001107859.1:n.253-12G>T | |
| NM_182606.3:c.262-12G>T | NP_872412.3:n.262-12G>T | |
| NM_001114387.2:c.253-12G>T MANE Select | NP_001107859.1:n.253-12G>T | |
| NM_182606.4:c.262-12G>T | NP_872412.3:n.262-12G>T |