Linked Data
dbSNP Id:
rs761710905
ExAC:
2:157435458 T / A
gnomAD v2:
2-157435458-T-A
gnomAD v3:
2-156578946-T-A
gnomAD v4:
2-156578946-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156578946T>A , CM000664.2:g.156578946T>A | GRCh38 |
| NC_000002.11:g.157435458T>A , CM000664.1:g.157435458T>A | GRCh37 |
| NC_000002.10:g.157143704T>A | NCBI36 |
| NG_016606.1:g.148494T>A | |
| NG_016606.2:g.148494T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438166.7:c.1825T>A MANE Select | ENSP00000409708.2:p.Ser609Thr | |
| ENST00000310454.10:c.1825T>A | ENSP00000308610.5:p.Ser609Thr | |
| ENST00000409125.8:c.1447T>A | ENSP00000386484.5:p.Ser483Thr | |
| ENST00000409674.5:c.1825T>A | ENSP00000386425.1:p.Ser609Thr | |
| ENST00000409861.5:c.1825T>A | ENSP00000386626.1:p.Ser609Thr | |
| ENST00000438166.6:c.1825T>A | ENSP00000409708.2:p.Ser609Thr | |
| ENST00000464846.5:n.179T>A | ||
| ENST00000540309.5:c.1135-140T>A | ENSP00000440892.1:n.1135-140T>A | |
| NM_000408.4:c.1825T>A | NP_000399.3:p.Ser609Thr | |
| NM_001083112.2:c.1825T>A | NP_001076581.2:p.Ser609Thr | |
| XM_005246469.1:c.1825T>A | XP_005246526.1:p.Ser609Thr | |
| XM_005246470.3:c.1723T>A | XP_005246527.1:p.Ser575Thr | |
| XM_011510977.1:c.1825T>A | XP_011509279.1:p.Ser609Thr | |
| XM_011510978.1:c.1723T>A | XP_011509280.1:p.Ser575Thr | |
| XM_011510979.1:c.1447T>A | XP_011509281.1:p.Ser483Thr | |
| XM_011510980.1:c.1144T>A | XP_011509282.1:p.Ser382Thr | |
| XM_005246469.2:c.1825T>A | XP_005246526.1:p.Ser609Thr | |
| XM_011510977.2:c.1825T>A | XP_011509279.1:p.Ser609Thr | |
| XM_011510978.2:c.1723T>A | XP_011509280.1:p.Ser575Thr | |
| XM_017003830.1:c.1825T>A | XP_016859319.1:p.Ser609Thr | |
| XM_024452798.1:c.1825T>A | XP_024308566.1:p.Ser609Thr | |
| NM_000408.5:c.1825T>A MANE Select | NP_000399.3:p.Ser609Thr | |
| NM_001083112.3:c.1825T>A | NP_001076581.2:p.Ser609Thr |