Linked Data
dbSNP Id:
rs775691341
ExAC:
16:3777757 T / C
gnomAD v2:
16-3777757-T-C
gnomAD v4:
16-3727756-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727756T>C , CM000678.2:g.3727756T>C | GRCh38 |
| NC_000016.9:g.3777757T>C , CM000678.1:g.3777757T>C | GRCh37 |
| NC_000016.8:g.3717758T>C | NCBI36 |
| NG_009873.1:g.157365A>G | |
| NG_009873.2:g.157958A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7291A>G MANE Select | ENSP00000262367.5:p.Thr2431Ala | |
| ENST00000262367.9:c.7291A>G | ENSP00000262367.5:p.Thr2431Ala | |
| ENST00000382070.7:c.7177A>G | ENSP00000371502.3:p.Thr2393Ala | |
| NM_001079846.1:c.7177A>G | NP_001073315.1:p.Thr2393Ala | |
| NM_004380.2:c.7291A>G | NP_004371.2:p.Thr2431Ala | |
| XM_005255124.3:c.7246A>G | XP_005255181.1:p.Thr2416Ala | |
| XM_005255125.3:c.6874A>G | XP_005255182.1:p.Thr2292Ala | |
| XM_006720848.2:c.7030A>G | XP_006720911.1:p.Thr2344Ala | |
| XM_011522380.1:c.7237A>G | XP_011520682.1:p.Thr2413Ala | |
| XM_011522381.1:c.6538A>G | XP_011520683.1:p.Thr2180Ala | |
| XM_005255124.4:c.7246A>G | XP_005255181.1:p.Thr2416Ala | |
| XM_005255125.4:c.6874A>G | XP_005255182.1:p.Thr2292Ala | |
| XM_006720848.3:c.7030A>G | XP_006720911.1:p.Thr2344Ala | |
| XM_011522381.2:c.6538A>G | XP_011520683.1:p.Thr2180Ala | |
| XM_017022944.1:c.7285A>G | XP_016878433.1:p.Thr2429Ala | |
| NM_004380.3:c.7291A>G MANE Select | NP_004371.2:p.Thr2431Ala |