Linked Data
dbSNP Id:
rs780999350
ExAC:
7:65425948 T / C
gnomAD v2:
7-65425948-T-C
gnomAD v3:
7-65960961-T-C
gnomAD v4:
7-65960961-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960961T>C , CM000669.2:g.65960961T>C | GRCh38 |
| NC_000007.13:g.65425948T>C , CM000669.1:g.65425948T>C | GRCh37 |
| NC_000007.12:g.65063383T>C | NCBI36 |
| NG_016197.1:g.26354A>G | |
| NG_051954.1:g.92863T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1892A>G MANE Select | ENSP00000302728.4:p.Asn631Ser | |
| ENST00000304895.8:c.1892A>G | ENSP00000302728.4:p.Asn631Ser | |
| ENST00000421103.5:c.1454A>G | ENSP00000391390.1:p.Asn485Ser | |
| ENST00000430730.5:c.*1159A>G | ENSP00000411859.1:n.*1159A>G | |
| ENST00000447929.5:c.*1272A>G | ENSP00000411262.1:n.*1272A>G | |
| ENST00000466883.5:n.2282A>G | ||
| NM_000181.3:c.1892A>G | NP_000172.2:p.Asn631Ser | |
| NM_001284290.1:c.1454A>G | NP_001271219.1:p.Asn485Ser | |
| NM_001293104.1:c.1322A>G | NP_001280033.1:p.Asn441Ser | |
| NM_001293105.1:c.1235A>G | NP_001280034.1:p.Asn412Ser | |
| NR_120531.1:n.1938A>G | ||
| XM_005250297.3:c.1739A>G | XP_005250354.1:p.Asn580Ser | |
| XM_011516113.1:c.1391A>G | XP_011514415.1:p.Asn464Ser | |
| XM_011516114.1:c.1220A>G | XP_011514416.1:p.Asn407Ser | |
| XM_005250297.4:c.1739A>G | XP_005250354.1:p.Asn580Ser | |
| XM_011516114.2:c.1220A>G | XP_011514416.1:p.Asn407Ser | |
| XM_017012091.1:c.1238A>G | XP_016867580.1:p.Asn413Ser | |
| XM_017012092.1:c.1169A>G | XP_016867581.1:p.Asn390Ser | |
| XM_017012093.2:c.1067A>G | XP_016867582.1:p.Asn356Ser | |
| XR_001744658.2:n.1699A>G | ||
| XR_001744659.2:n.1812A>G | ||
| XR_001744660.2:n.1744A>G | ||
| XR_001744661.2:n.1659A>G | ||
| XR_927461.3:n.1897A>G | ||
| NM_000181.4:c.1892A>G MANE Select | NP_000172.2:p.Asn631Ser | |
| NM_001284290.2:c.1454A>G | NP_001271219.1:p.Asn485Ser | |
| NM_001293104.2:c.1322A>G | NP_001280033.1:p.Asn441Ser | |
| NM_001293105.2:c.1235A>G | NP_001280034.1:p.Asn412Ser | |
| NR_120531.2:n.1837A>G |