Linked Data
dbSNP Id:
rs760027070
ExAC:
8:23069630 T / C
gnomAD v2:
8-23069630-T-C
gnomAD v3:
8-23212117-T-C
gnomAD v4:
8-23212117-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212117T>C , CM000670.2:g.23212117T>C | GRCh38 |
| NC_000008.10:g.23069630T>C , CM000670.1:g.23069630T>C | GRCh37 |
| NC_000008.9:g.23125575T>C | NCBI36 |
| NG_032107.1:g.18051A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.402A>G MANE Select | ENSP00000221132.3:p.Pro134= | |
| ENST00000221132.7:c.402A>G | ENSP00000221132.3:p.Pro134= | |
| ENST00000524158.5:c.-205A>G | ENSP00000428884.1:n.-205A>G | |
| ENST00000613472.1:c.32-9458A>G | ENSP00000480778.1:n.32-9458A>G | |
| NM_003844.3:c.402A>G | NP_003835.3:p.Pro134= | |
| NM_003844.4:c.402A>G MANE Select | NP_003835.3:p.Pro134= |