Linked Data
dbSNP Id:
rs758359901
ExAC:
16:3778927 A / C
gnomAD v2:
16-3778927-A-C
gnomAD v4:
16-3728926-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728926A>C , CM000678.2:g.3728926A>C | GRCh38 |
| NC_000016.9:g.3778927A>C , CM000678.1:g.3778927A>C | GRCh37 |
| NC_000016.8:g.3718928A>C | NCBI36 |
| NG_009873.1:g.156195T>G | |
| NG_009873.2:g.156788T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6121T>G MANE Select | ENSP00000262367.5:p.Ser2041Ala | |
| ENST00000262367.9:c.6121T>G | ENSP00000262367.5:p.Ser2041Ala | |
| ENST00000382070.7:c.6007T>G | ENSP00000371502.3:p.Ser2003Ala | |
| NM_001079846.1:c.6007T>G | NP_001073315.1:p.Ser2003Ala | |
| NM_004380.2:c.6121T>G | NP_004371.2:p.Ser2041Ala | |
| XM_005255124.3:c.6076T>G | XP_005255181.1:p.Ser2026Ala | |
| XM_005255125.3:c.5704T>G | XP_005255182.1:p.Ser1902Ala | |
| XM_006720848.2:c.5860T>G | XP_006720911.1:p.Ser1954Ala | |
| XM_011522380.1:c.6067T>G | XP_011520682.1:p.Ser2023Ala | |
| XM_011522381.1:c.5368T>G | XP_011520683.1:p.Ser1790Ala | |
| XM_005255124.4:c.6076T>G | XP_005255181.1:p.Ser2026Ala | |
| XM_005255125.4:c.5704T>G | XP_005255182.1:p.Ser1902Ala | |
| XM_006720848.3:c.5860T>G | XP_006720911.1:p.Ser1954Ala | |
| XM_011522381.2:c.5368T>G | XP_011520683.1:p.Ser1790Ala | |
| XM_017022944.1:c.6115T>G | XP_016878433.1:p.Ser2039Ala | |
| NM_004380.3:c.6121T>G MANE Select | NP_004371.2:p.Ser2041Ala |