Linked Data
dbSNP Id:
rs7102974
ExAC:
11:61560035 C / T
gnomAD v2:
11-61560035-C-T
gnomAD v3:
11-61792563-C-T
gnomAD v4:
11-61792563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61792563C>T , CM000673.2:g.61792563C>T | GRCh38 |
| NC_000011.9:g.61560035C>T , CM000673.1:g.61560035C>T | GRCh37 |
| NC_000011.8:g.61316611C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537328.6:c.-5G>A MANE Select | ENSP00000443216.1:n.-5G>A | |
| ENST00000257262.12:c.-5G>A | ENSP00000257262.8:n.-5G>A | |
| ENST00000535297.1:c.-5G>A | ENSP00000437809.1:n.-5G>A | |
| ENST00000537328.5:c.-5G>A | ENSP00000443216.1:n.-5G>A | |
| ENST00000540434.1:n.40G>A | ||
| ENST00000541893.5:c.-5G>A | ENSP00000441836.1:n.-5G>A | |
| ENST00000543510.1:c.-1113G>A | ENSP00000443836.1:n.-1113G>A | |
| ENST00000545210.5:c.-5G>A | ENSP00000445404.1:n.-5G>A | |
| NM_014206.3:c.-5G>A | NP_055021.1:n.-5G>A | |
| NM_014206.4:c.-5G>A MANE Select | NP_055021.1:n.-5G>A |