Linked Data
dbSNP Id:
rs754571423
ExAC:
4:68606272 T / A
gnomAD v2:
4-68606272-T-A
gnomAD v4:
4-67740554-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740554T>A , CM000666.2:g.67740554T>A | GRCh38 |
| NC_000004.11:g.68606272T>A , CM000666.1:g.68606272T>A | GRCh37 |
| NC_000004.10:g.68288867T>A | NCBI36 |
| NG_009293.1:g.20533A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.913A>T MANE Select | ENSP00000226413.5:p.Asn305Tyr | |
| ENST00000226413.4:c.913A>T | ENSP00000226413.4:p.Asn305Tyr | |
| ENST00000420975.2:c.785A>T | ENSP00000397561.2:n.785A>T | |
| NM_000406.2:c.913A>T | NP_000397.1:p.Asn305Tyr | |
| NM_001012763.1:c.*35A>T | NP_001012781.1:n.*35A>T | |
| NM_000406.3:c.913A>T MANE Select | NP_000397.1:p.Asn305Tyr | |
| NM_001012763.2:c.*35A>T | NP_001012781.1:n.*35A>T |