Linked Data
dbSNP Id:
rs1469799490
gnomAD v2:
1-68895577-G-C
gnomAD v3:
1-68429894-G-C
gnomAD v4:
1-68429894-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429894G>C , CM000663.2:g.68429894G>C | GRCh38 |
| NC_000001.10:g.68895577G>C , CM000663.1:g.68895577G>C | GRCh37 |
| NC_000001.9:g.68668165G>C | NCBI36 |
| NG_008472.1:g.25066C>G | |
| NG_008472.2:g.25066C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1484C>G MANE Select | ENSP00000262340.5:p.Ala495Gly | |
| ENST00000262340.5:c.1484C>G | ENSP00000262340.5:p.Ala495Gly | |
| NM_000329.2:c.1484C>G | NP_000320.1:p.Ala495Gly | |
| XM_017002027.1:c.1208C>G | XP_016857516.1:p.Ala403Gly | |
| NM_000329.3:c.1484C>G MANE Select | NP_000320.1:p.Ala495Gly |