Linked Data
dbSNP Id:
rs777035608
ExAC:
8:16850643 G / C
gnomAD v2:
8-16850643-G-C
gnomAD v4:
8-16993134-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993134G>C , CM000670.2:g.16993134G>C | GRCh38 |
| NC_000008.10:g.16850643G>C , CM000670.1:g.16850643G>C | GRCh37 |
| NC_000008.9:g.16895014G>C | NCBI36 |
| NG_015978.1:g.14032C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.574C>G MANE Select | ENSP00000180166.5:p.Pro192Ala | |
| ENST00000180166.5:c.574C>G | ENSP00000180166.5:p.Pro192Ala | |
| ENST00000519941.1:c.278C>G | ||
| NM_019851.2:c.574C>G | NP_062825.1:p.Pro192Ala | |
| NM_019851.3:c.574C>G MANE Select | NP_062825.1:p.Pro192Ala |