Linked Data
dbSNP Id:
rs755307895
ExAC:
5:148206898 C / G
gnomAD v2:
5-148206898-C-G
gnomAD v4:
5-148827335-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827335C>G , CM000667.2:g.148827335C>G | GRCh38 |
| NC_000005.9:g.148206898C>G , CM000667.1:g.148206898C>G | GRCh37 |
| NC_000005.8:g.148187091C>G | NCBI36 |
| NG_016421.1:g.5743C>G | |
| NG_016421.2:g.5743C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.504C>G MANE Select | ENSP00000305372.4:p.Pro168= | |
| ENST00000305988.5:c.504C>G | ENSP00000305372.4:p.Pro168= | |
| NM_000024.5:c.504C>G | NP_000015.1:p.Pro168= | |
| NM_000024.6:c.504C>G MANE Select | NP_000015.2:p.Pro168= |