Linked Data
dbSNP Id:
rs374150949
ExAC:
16:3778853 G / C
gnomAD v2:
16-3778853-G-C
gnomAD v4:
16-3728852-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728852G>C , CM000678.2:g.3728852G>C | GRCh38 |
| NC_000016.9:g.3778853G>C , CM000678.1:g.3778853G>C | GRCh37 |
| NC_000016.8:g.3718854G>C | NCBI36 |
| NG_009873.1:g.156269C>G | |
| NG_009873.2:g.156862C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6195C>G MANE Select | ENSP00000262367.5:p.Ser2065Arg | |
| ENST00000262367.9:c.6195C>G | ENSP00000262367.5:p.Ser2065Arg | |
| ENST00000382070.7:c.6081C>G | ENSP00000371502.3:p.Ser2027Arg | |
| NM_001079846.1:c.6081C>G | NP_001073315.1:p.Ser2027Arg | |
| NM_004380.2:c.6195C>G | NP_004371.2:p.Ser2065Arg | |
| XM_005255124.3:c.6150C>G | XP_005255181.1:p.Ser2050Arg | |
| XM_005255125.3:c.5778C>G | XP_005255182.1:p.Ser1926Arg | |
| XM_006720848.2:c.5934C>G | XP_006720911.1:p.Ser1978Arg | |
| XM_011522380.1:c.6141C>G | XP_011520682.1:p.Ser2047Arg | |
| XM_011522381.1:c.5442C>G | XP_011520683.1:p.Ser1814Arg | |
| XM_005255124.4:c.6150C>G | XP_005255181.1:p.Ser2050Arg | |
| XM_005255125.4:c.5778C>G | XP_005255182.1:p.Ser1926Arg | |
| XM_006720848.3:c.5934C>G | XP_006720911.1:p.Ser1978Arg | |
| XM_011522381.2:c.5442C>G | XP_011520683.1:p.Ser1814Arg | |
| XM_017022944.1:c.6189C>G | XP_016878433.1:p.Ser2063Arg | |
| NM_004380.3:c.6195C>G MANE Select | NP_004371.2:p.Ser2065Arg |