Linked Data
ClinVar Variation Id:
2717571
ClinVar RCV Id:
RCV003548840
dbSNP Id:
rs777388371
gnomAD v2:
18-21483029-T-A
gnomAD v4:
18-23903065-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23903065T>A , CM000680.2:g.23903065T>A | GRCh38 |
| NC_000018.9:g.21483029T>A , CM000680.1:g.21483029T>A | GRCh37 |
| NC_000018.8:g.19737027T>A | NCBI36 |
| NG_007853.2:g.218468T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.1431T>A MANE Plus Clinical | ENSP00000269217.5:p.Thr477= | |
| ENST00000313654.14:c.6258T>A MANE Select | ENSP00000324532.8:p.Thr2086= | |
| ENST00000649721.1:c.3150T>A | ENSP00000497885.1:p.Thr1050= | |
| ENST00000269217.10:c.1431T>A | ENSP00000269217.5:p.Thr477= | |
| ENST00000313654.13:c.6258T>A | ENSP00000324532.8:p.Thr2086= | |
| ENST00000399516.7:c.6090T>A | ENSP00000382432.2:p.Thr2030= | |
| ENST00000586751.5:c.1036T>A | ||
| ENST00000587184.5:c.1263T>A | ENSP00000466557.1:p.Thr421= | |
| ENST00000588770.5:n.836T>A | ||
| NM_000227.4:c.1431T>A | NP_000218.3:p.Thr477= | |
| NM_001127717.2:c.6090T>A | NP_001121189.2:p.Thr2030= | |
| NM_001127718.2:c.1263T>A | NP_001121190.2:p.Thr421= | |
| NM_198129.2:c.6258T>A | NP_937762.2:p.Thr2086= | |
| XM_011525978.1:c.6285T>A | XP_011524280.1:p.Thr2095= | |
| XM_011525979.1:c.6276T>A | XP_011524281.1:p.Thr2092= | |
| XM_011525980.1:c.6267T>A | XP_011524282.1:p.Thr2089= | |
| XM_011525981.1:c.6153T>A | XP_011524283.1:p.Thr2051= | |
| XM_011525982.1:c.6285T>A | XP_011524284.1:p.Thr2095= | |
| XM_011525978.2:c.6285T>A | XP_011524280.1:p.Thr2095= | |
| XM_011525979.2:c.6276T>A | XP_011524281.1:p.Thr2092= | |
| XM_011525980.2:c.6267T>A | XP_011524282.1:p.Thr2089= | |
| XM_011525981.2:c.6153T>A | XP_011524283.1:p.Thr2051= | |
| XM_011525982.2:c.6285T>A | XP_011524284.1:p.Thr2095= | |
| XM_017025743.1:c.4137T>A | XP_016881232.1:p.Thr1379= | |
| XM_017025744.1:c.1827T>A | XP_016881233.1:p.Thr609= | |
| XR_001753199.1:n.6526T>A | ||
| NM_000227.5:c.1431T>A | NP_000218.3:p.Thr477= | |
| NM_001127717.3:c.6090T>A | NP_001121189.2:p.Thr2030= | |
| NM_001127718.3:c.1263T>A | NP_001121190.2:p.Thr421= | |
| NM_198129.3:c.6258T>A | NP_937762.2:p.Thr2086= | |
| NM_000227.6:c.1431T>A MANE Plus Clinical | NP_000218.3:p.Thr477= | |
| NM_001127717.4:c.6090T>A | NP_001121189.2:p.Thr2030= | |
| NM_001127718.4:c.1263T>A | NP_001121190.2:p.Thr421= | |
| NM_198129.4:c.6258T>A MANE Select | NP_937762.2:p.Thr2086= |