Linked Data
dbSNP Id:
rs1255268911
gnomAD v2:
1-173826763-T-G
gnomAD v3:
1-173857625-T-G
gnomAD v4:
1-173857625-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173857625T>G , CM000663.2:g.173857625T>G | GRCh38 |
| NC_000001.10:g.173826763T>G , CM000663.1:g.173826763T>G | GRCh37 |
| NC_000001.9:g.172093386T>G | NCBI36 |
| NG_016138.1:g.37967T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471476.2:c.*1437T>G | ENSP00000497663.1:n.*1437T>G | |
| ENST00000647645.1:c.1795T>G | ENSP00000497450.1:p.Ser599Ala | |
| ENST00000647730.1:c.*1548T>G | ENSP00000497781.1:n.*1548T>G | |
| ENST00000647788.1:c.*1002T>G | ENSP00000497769.1:n.*1002T>G | |
| ENST00000648271.1:c.*2324T>G | ENSP00000497795.1:n.*2324T>G | |
| ENST00000648807.1:c.1705T>G | ENSP00000497472.1:p.Ser569Ala | |
| ENST00000648960.1:c.1375T>G | ENSP00000497091.1:p.Ser459Ala | |
| ENST00000649067.1:c.*861T>G | ENSP00000497052.1:n.*861T>G | |
| ENST00000649689.2:c.1858T>G MANE Select | ENSP00000497569.1:p.Ser620Ala | |
| ENST00000361951.4:c.1858T>G | ENSP00000355086.4:p.Ser620Ala | |
| ENST00000471476.1:n.680T>G | ||
| NM_018122.4:c.1858T>G | NP_060592.2:p.Ser620Ala | |
| XM_006711427.2:c.1705T>G | XP_006711490.1:p.Ser569Ala | |
| NM_001365212.1:c.1705T>G | NP_001352141.1:p.Ser569Ala | |
| NM_018122.5:c.1858T>G MANE Select | NP_060592.2:p.Ser620Ala |