Linked Data
dbSNP Id:
rs761268599
ExAC:
2:27308156 C / G
gnomAD v2:
2-27308156-C-G
gnomAD v3:
2-27085288-C-G
gnomAD v4:
2-27085288-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085288C>G , CM000664.2:g.27085288C>G | GRCh38 |
| NC_000002.11:g.27308156C>G , CM000664.1:g.27308156C>G | GRCh37 |
| NC_000002.10:g.27161660C>G | NCBI36 |
| NG_012199.1:g.3546C>G | |
| NG_046849.1:g.11722C>G | |
| NG_012199.2:g.3546C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2704C>G MANE Select | ENSP00000369677.4:p.Pro902Ala | |
| ENST00000380320.8:c.2704C>G | ENSP00000369677.4:p.Pro902Ala | |
| ENST00000433140.1:c.696C>G | ||
| NM_007046.3:c.2704C>G | NP_008977.1:p.Pro902Ala | |
| XM_006711928.2:c.2575+280C>G | XP_006711991.1:n.2575+280C>G | |
| NM_007046.4:c.2704C>G MANE Select | NP_008977.1:p.Pro902Ala |