Linked Data
dbSNP Id:
rs747417208
ExAC:
16:3778752 G / C
gnomAD v2:
16-3778752-G-C
gnomAD v4:
16-3728751-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728751G>C , CM000678.2:g.3728751G>C | GRCh38 |
| NC_000016.9:g.3778752G>C , CM000678.1:g.3778752G>C | GRCh37 |
| NC_000016.8:g.3718753G>C | NCBI36 |
| NG_009873.1:g.156370C>G | |
| NG_009873.2:g.156963C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6296C>G MANE Select | ENSP00000262367.5:p.Ala2099Gly | |
| ENST00000262367.9:c.6296C>G | ENSP00000262367.5:p.Ala2099Gly | |
| ENST00000382070.7:c.6182C>G | ENSP00000371502.3:p.Ala2061Gly | |
| NM_001079846.1:c.6182C>G | NP_001073315.1:p.Ala2061Gly | |
| NM_004380.2:c.6296C>G | NP_004371.2:p.Ala2099Gly | |
| XM_005255124.3:c.6251C>G | XP_005255181.1:p.Ala2084Gly | |
| XM_005255125.3:c.5879C>G | XP_005255182.1:p.Ala1960Gly | |
| XM_006720848.2:c.6035C>G | XP_006720911.1:p.Ala2012Gly | |
| XM_011522380.1:c.6242C>G | XP_011520682.1:p.Ala2081Gly | |
| XM_011522381.1:c.5543C>G | XP_011520683.1:p.Ala1848Gly | |
| XM_005255124.4:c.6251C>G | XP_005255181.1:p.Ala2084Gly | |
| XM_005255125.4:c.5879C>G | XP_005255182.1:p.Ala1960Gly | |
| XM_006720848.3:c.6035C>G | XP_006720911.1:p.Ala2012Gly | |
| XM_011522381.2:c.5543C>G | XP_011520683.1:p.Ala1848Gly | |
| XM_017022944.1:c.6290C>G | XP_016878433.1:p.Ala2097Gly | |
| NM_004380.3:c.6296C>G MANE Select | NP_004371.2:p.Ala2099Gly |