Linked Data
dbSNP Id:
rs1373035166
gnomAD v2:
3-81698131-G-A
gnomAD v3:
3-81648980-G-A
gnomAD v4:
3-81648980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648980G>A , CM000665.2:g.81648980G>A | GRCh38 |
| NC_000003.11:g.81698131G>A , CM000665.1:g.81698131G>A | GRCh37 |
| NC_000003.10:g.81780821G>A | NCBI36 |
| NG_011810.1:g.117821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.567C>T MANE Select | ENSP00000410833.2:p.Ser189= | |
| ENST00000429644.6:c.567C>T | ENSP00000410833.2:p.Ser189= | |
| ENST00000486920.1:n.563C>T | ||
| ENST00000489715.1:c.444C>T | ENSP00000419638.1:p.Ser148= | |
| ENST00000498468.1:n.95C>T | ||
| NM_000158.3:c.567C>T | NP_000149.3:p.Ser189= | |
| NM_000158.4:c.567C>T MANE Select | NP_000149.4:p.Ser189= |