Linked Data
dbSNP Id:
rs1169884324
gnomAD v2:
8-37823463-G-A
gnomAD v3:
8-37965945-G-A
gnomAD v4:
8-37965945-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965945G>A , CM000670.2:g.37965945G>A | GRCh38 |
| NC_000008.10:g.37823463G>A , CM000670.1:g.37823463G>A | GRCh37 |
| NC_000008.9:g.37942620G>A | NCBI36 |
| NG_011936.1:g.5722C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.525C>T MANE Select | ENSP00000343782.3:p.Ser175= | |
| ENST00000520341.2:n.653C>T | ||
| ENST00000647937.1:c.9C>T | ENSP00000497740.1:p.Ser3= | |
| ENST00000345060.4:c.525C>T | ENSP00000343782.3:p.Ser175= | |
| ENST00000614635.1:c.525C>T | ENSP00000480325.1:p.Ser175= | |
| NM_000025.2:c.525C>T | NP_000016.1:p.Ser175= | |
| NM_000025.3:c.525C>T MANE Select | NP_000016.1:p.Ser175= |