Linked Data
dbSNP Id:
rs757446484
ExAC:
16:3777912 T / C
gnomAD v3:
16-3727911-T-C
gnomAD v4:
16-3727911-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727911T>C , CM000678.2:g.3727911T>C | GRCh38 |
| NC_000016.9:g.3777912T>C , CM000678.1:g.3777912T>C | GRCh37 |
| NC_000016.8:g.3717913T>C | NCBI36 |
| NG_009873.1:g.157210A>G | |
| NG_009873.2:g.157803A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7136A>G MANE Select | ENSP00000262367.5:p.Gln2379Arg | |
| ENST00000262367.9:c.7136A>G | ENSP00000262367.5:p.Gln2379Arg | |
| ENST00000382070.7:c.7022A>G | ENSP00000371502.3:p.Gln2341Arg | |
| NM_001079846.1:c.7022A>G | NP_001073315.1:p.Gln2341Arg | |
| NM_004380.2:c.7136A>G | NP_004371.2:p.Gln2379Arg | |
| XM_005255124.3:c.7091A>G | XP_005255181.1:p.Gln2364Arg | |
| XM_005255125.3:c.6719A>G | XP_005255182.1:p.Gln2240Arg | |
| XM_006720848.2:c.6875A>G | XP_006720911.1:p.Gln2292Arg | |
| XM_011522380.1:c.7082A>G | XP_011520682.1:p.Gln2361Arg | |
| XM_011522381.1:c.6383A>G | XP_011520683.1:p.Gln2128Arg | |
| XM_005255124.4:c.7091A>G | XP_005255181.1:p.Gln2364Arg | |
| XM_005255125.4:c.6719A>G | XP_005255182.1:p.Gln2240Arg | |
| XM_006720848.3:c.6875A>G | XP_006720911.1:p.Gln2292Arg | |
| XM_011522381.2:c.6383A>G | XP_011520683.1:p.Gln2128Arg | |
| XM_017022944.1:c.7130A>G | XP_016878433.1:p.Gln2377Arg | |
| NM_004380.3:c.7136A>G MANE Select | NP_004371.2:p.Gln2379Arg |