Linked Data
dbSNP Id:
rs17783344
ExAC:
2:163208893 T / G
gnomAD v2:
2-163208893-T-G
gnomAD v3:
2-162352383-T-G
gnomAD v4:
2-162352383-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162352383T>G , CM000664.2:g.162352383T>G | GRCh38 |
| NC_000002.11:g.163208893T>G , CM000664.1:g.163208893T>G | GRCh37 |
| NC_000002.10:g.162917139T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000437150.7:c.238T>G MANE Select | ENSP00000394842.2:p.Ser80Ala | |
| ENST00000233612.8:c.181T>G | ENSP00000233612.4:p.Ser61Ala | |
| ENST00000429691.6:c.181T>G | ENSP00000412899.2:p.Ser61Ala | |
| ENST00000437150.6:c.238T>G | ENSP00000394842.2:p.Ser80Ala | |
| ENST00000446271.5:c.316T>G | ENSP00000393218.1:p.Ser106Ala | |
| ENST00000453113.6:c.181T>G | ENSP00000403805.2:p.Ser61Ala | |
| ENST00000473240.5:n.669T>G | ||
| ENST00000479199.1:n.305T>G | ||
| ENST00000481161.5:n.353T>G | ||
| ENST00000487445.6:n.328T>G | ||
| NM_012198.3:c.238T>G | NP_036330.1:p.Ser80Ala | |
| XM_005246446.2:c.238T>G | XP_005246503.1:p.Ser80Ala | |
| XM_006712398.2:c.316T>G | XP_006712461.1:p.Ser106Ala | |
| XM_006712399.2:c.316T>G | XP_006712462.1:p.Ser106Ala | |
| XM_006712400.2:c.283T>G | XP_006712463.1:p.Ser95Ala | |
| XM_006712401.2:c.316T>G | XP_006712464.1:p.Ser106Ala | |
| XM_011510926.1:c.181T>G | XP_011509228.1:p.Ser61Ala | |
| XM_011510927.1:c.181T>G | XP_011509229.1:p.Ser61Ala | |
| NM_001330265.1:c.283T>G | NP_001317194.1:p.Ser95Ala | |
| NM_001330266.1:c.283T>G | NP_001317195.1:p.Ser95Ala | |
| NM_001330267.1:c.283T>G | NP_001317196.1:p.Ser95Ala | |
| NM_001330268.1:c.316T>G | NP_001317197.1:p.Ser106Ala | |
| NM_001330270.1:c.181T>G | NP_001317199.1:p.Ser61Ala | |
| NM_001330271.1:c.181T>G | NP_001317200.1:p.Ser61Ala | |
| NM_012198.4:c.238T>G | NP_036330.1:p.Ser80Ala | |
| XM_005246446.3:c.238T>G | XP_005246503.1:p.Ser80Ala | |
| XM_006712398.4:c.316T>G | XP_006712461.1:p.Ser106Ala | |
| XM_006712400.4:c.283T>G | XP_006712463.1:p.Ser95Ala | |
| XM_011510926.2:c.181T>G | XP_011509228.1:p.Ser61Ala | |
| XM_017003767.1:c.181T>G | XP_016859256.1:p.Ser61Ala | |
| XM_017003769.2:c.316T>G | XP_016859258.1:p.Ser106Ala | |
| NM_012198.5:c.238T>G MANE Select | NP_036330.1:p.Ser80Ala | |
| NM_001330270.2:c.181T>G | NP_001317199.1:p.Ser61Ala | |
| NM_001330271.2:c.181T>G | NP_001317200.1:p.Ser61Ala |