Linked Data
dbSNP Id:
rs761215628
ExAC:
11:116703570 G / A
gnomAD v2:
11-116703570-G-A
gnomAD v4:
11-116832854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832854G>A , CM000673.2:g.116832854G>A | GRCh38 |
| NC_000011.9:g.116703570G>A , CM000673.1:g.116703570G>A | GRCh37 |
| NC_000011.8:g.116208780G>A | NCBI36 |
| NG_008949.1:g.7947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.270G>A MANE Select | ENSP00000227667.2:p.Glu90= | |
| ENST00000227667.7:c.270G>A | ENSP00000227667.2:p.Glu90= | |
| ENST00000375345.3:c.324G>A | ENSP00000364494.1:p.Glu108= | |
| ENST00000630701.1:c.324G>A | ENSP00000486182.1:p.Glu108= | |
| NM_000040.1:c.270G>A | NP_000031.1:p.Glu90= | |
| NM_000040.2:c.270G>A | NP_000031.1:p.Glu90= | |
| NM_000040.3:c.270G>A MANE Select | NP_000031.1:p.Glu90= |