Linked Data
ClinVar Variation Id:
768931
dbSNP Id:
rs115991457
ExAC:
18:21530055 A / T
gnomAD v2:
18-21530055-A-T
gnomAD v3:
18-23950091-A-T
gnomAD v4:
18-23950091-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23950091A>T , CM000680.2:g.23950091A>T | GRCh38 |
| NC_000018.9:g.21530055A>T , CM000680.1:g.21530055A>T | GRCh37 |
| NC_000018.8:g.19784053A>T | NCBI36 |
| NG_007853.2:g.265494A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.4747A>T MANE Plus Clinical | ENSP00000269217.5:p.Thr1583Ser | |
| ENST00000313654.14:c.9574A>T MANE Select | ENSP00000324532.8:p.Thr3192Ser | |
| ENST00000649721.1:c.6169A>T | ENSP00000497885.1:p.Thr2057Ser | |
| ENST00000269217.10:c.4747A>T | ENSP00000269217.5:p.Thr1583Ser | |
| ENST00000313654.13:c.9574A>T | ENSP00000324532.8:p.Thr3192Ser | |
| ENST00000399516.7:c.9406A>T | ENSP00000382432.2:p.Thr3136Ser | |
| ENST00000587184.5:c.4579A>T | ENSP00000466557.1:p.Thr1527Ser | |
| ENST00000588004.1:c.95A>T | ||
| ENST00000588770.5:n.4152A>T | ||
| NM_000227.4:c.4747A>T | NP_000218.3:p.Thr1583Ser | |
| NM_001127717.2:c.9406A>T | NP_001121189.2:p.Thr3136Ser | |
| NM_001127718.2:c.4579A>T | NP_001121190.2:p.Thr1527Ser | |
| NM_198129.2:c.9574A>T | NP_937762.2:p.Thr3192Ser | |
| XM_011525978.1:c.9601A>T | XP_011524280.1:p.Thr3201Ser | |
| XM_011525979.1:c.9592A>T | XP_011524281.1:p.Thr3198Ser | |
| XM_011525980.1:c.9583A>T | XP_011524282.1:p.Thr3195Ser | |
| XM_011525981.1:c.9469A>T | XP_011524283.1:p.Thr3157Ser | |
| XM_011525982.1:c.9304A>T | XP_011524284.1:p.Thr3102Ser | |
| XM_011525978.2:c.9601A>T | XP_011524280.1:p.Thr3201Ser | |
| XM_011525979.2:c.9592A>T | XP_011524281.1:p.Thr3198Ser | |
| XM_011525980.2:c.9583A>T | XP_011524282.1:p.Thr3195Ser | |
| XM_011525981.2:c.9469A>T | XP_011524283.1:p.Thr3157Ser | |
| XM_011525982.2:c.9304A>T | XP_011524284.1:p.Thr3102Ser | |
| XM_017025743.1:c.7453A>T | XP_016881232.1:p.Thr2485Ser | |
| XM_017025744.1:c.5143A>T | XP_016881233.1:p.Thr1715Ser | |
| XR_001753199.1:n.9842A>T | ||
| NM_000227.5:c.4747A>T | NP_000218.3:p.Thr1583Ser | |
| NM_001127717.3:c.9406A>T | NP_001121189.2:p.Thr3136Ser | |
| NM_001127718.3:c.4579A>T | NP_001121190.2:p.Thr1527Ser | |
| NM_198129.3:c.9574A>T | NP_937762.2:p.Thr3192Ser | |
| NM_000227.6:c.4747A>T MANE Plus Clinical | NP_000218.3:p.Thr1583Ser | |
| NM_001127717.4:c.9406A>T | NP_001121189.2:p.Thr3136Ser | |
| NM_001127718.4:c.4579A>T | NP_001121190.2:p.Thr1527Ser | |
| NM_198129.4:c.9574A>T MANE Select | NP_937762.2:p.Thr3192Ser |