Linked Data
dbSNP Id:
rs769440323
ExAC:
4:68619833 G / T
gnomAD v2:
4-68619833-G-T
gnomAD v4:
4-67754115-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754115G>T , CM000666.2:g.67754115G>T | GRCh38 |
| NC_000004.11:g.68619833G>T , CM000666.1:g.68619833G>T | GRCh37 |
| NC_000004.10:g.68302428G>T | NCBI36 |
| NG_009293.1:g.6972C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.221C>A MANE Select | ENSP00000226413.5:p.Ser74Ter | |
| ENST00000226413.4:c.221C>A | ENSP00000226413.4:p.Ser74Ter | |
| ENST00000420975.2:c.221C>A | ENSP00000397561.2:p.Ser74Ter | |
| NM_000406.2:c.221C>A | NP_000397.1:p.Ser74Ter | |
| NM_001012763.1:c.221C>A | NP_001012781.1:p.Ser74Ter | |
| NM_000406.3:c.221C>A MANE Select | NP_000397.1:p.Ser74Ter | |
| NM_001012763.2:c.221C>A | NP_001012781.1:p.Ser74Ter |