Linked Data
dbSNP Id:
rs767963299
ExAC:
8:23069632 G / A
gnomAD v2:
8-23069632-G-A
gnomAD v3:
8-23212119-G-A
gnomAD v4:
8-23212119-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212119G>A , CM000670.2:g.23212119G>A | GRCh38 |
| NC_000008.10:g.23069632G>A , CM000670.1:g.23069632G>A | GRCh37 |
| NC_000008.9:g.23125577G>A | NCBI36 |
| NG_032107.1:g.18049C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.400C>T MANE Select | ENSP00000221132.3:p.Pro134Ser | |
| ENST00000221132.7:c.400C>T | ENSP00000221132.3:p.Pro134Ser | |
| ENST00000524158.5:c.-207C>T | ENSP00000428884.1:n.-207C>T | |
| ENST00000613472.1:c.32-9460C>T | ENSP00000480778.1:n.32-9460C>T | |
| NM_003844.3:c.400C>T | NP_003835.3:p.Pro134Ser | |
| NM_003844.4:c.400C>T MANE Select | NP_003835.3:p.Pro134Ser |