Linked Data
dbSNP Id:
rs560615310
ExAC:
3:183778035 G / T
gnomAD v2:
3-183778035-G-T
gnomAD v3:
3-184060247-G-T
gnomAD v4:
3-184060247-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060247G>T , CM000665.2:g.184060247G>T | GRCh38 |
| NC_000003.11:g.183778035G>T , CM000665.1:g.183778035G>T | GRCh37 |
| NC_000003.10:g.185260729G>T | NCBI36 |
| NG_012749.1:g.12201G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1239G>T MANE Select | ENSP00000322617.1:p.Glu413Asp | |
| ENST00000318351.1:c.1239G>T | ENSP00000322617.1:p.Glu413Asp | |
| NM_130770.2:c.1239G>T | NP_570126.2:p.Glu413Asp | |
| NM_130770.3:c.1239G>T MANE Select | NP_570126.2:p.Glu413Asp |