Linked Data
ClinVar Variation Id:
16024
dbSNP Id:
rs104893837
ExAC:
4:68606400 C / T
gnomAD v2:
4-68606400-C-T
gnomAD v3:
4-67740682-C-T
gnomAD v4:
4-67740682-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740682C>T , CM000666.2:g.67740682C>T | GRCh38 |
| NC_000004.11:g.68606400C>T , CM000666.1:g.68606400C>T | GRCh37 |
| NC_000004.10:g.68288995C>T | NCBI36 |
| NG_009293.1:g.20405G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000226413.5:c.785G>A MANE Select | ENSP00000226413.5:p.Arg262Gln | |
| ENST00000226413.4:c.785G>A | ENSP00000226413.4:p.Arg262Gln | |
| ENST00000420975.2:c.657G>A | ENSP00000397561.2:p.Thr219= | |
| NM_000406.2:c.785G>A | NP_000397.1:p.Arg262Gln | |
| NM_001012763.1:c.657G>A | NP_001012781.1:p.Thr219= | |
| NM_000406.3:c.785G>A MANE Select | NP_000397.1:p.Arg262Gln | |
| NM_001012763.2:c.657G>A | NP_001012781.1:p.Thr219= |