Linked Data
dbSNP Id:
rs764136045
ExAC:
1:6172326 C / G
gnomAD v2:
1-6172326-C-G
gnomAD v3:
1-6112266-C-G
gnomAD v4:
1-6112266-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112266C>G , CM000663.2:g.6112266C>G | GRCh38 |
| NC_000001.10:g.6172326C>G , CM000663.1:g.6172326C>G | GRCh37 |
| NC_000001.9:g.6094913C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5014G>C MANE Select | ENSP00000262450.3:p.Ala1672Pro | |
| ENST00000262450.7:c.5014G>C | ENSP00000262450.3:p.Ala1672Pro | |
| ENST00000377999.5:c.1917G>C | ENSP00000367238.2:n.1917G>C | |
| ENST00000462991.5:c.3267G>C | ||
| ENST00000496404.1:c.3732G>C | ENSP00000433676.1:n.3732G>C | |
| NM_015557.2:c.5014G>C | NP_056372.1:p.Ala1672Pro | |
| NM_015557.3:c.5014G>C MANE Select | NP_056372.1:p.Ala1672Pro |