Linked Data
ClinVar Variation Id:
45996
dbSNP Id:
rs397517347
ExAC:
10:73550058 G / A
gnomAD v2:
10-73550058-G-A
gnomAD v3:
10-71790301-G-A
gnomAD v4:
10-71790301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71790301G>A , CM000672.2:g.71790301G>A | GRCh38 |
| NC_000010.10:g.73550058G>A , CM000672.1:g.73550058G>A | GRCh37 |
| NC_000010.9:g.73220064G>A | NCBI36 |
| NG_008835.1:g.398355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5937G>A MANE Select | ENSP00000224721.9:p.Thr1979= | |
| ENST00000224721.10:c.5952G>A | ENSP00000224721.8:p.Thr1984= | |
| ENST00000622827.4:c.5937G>A | ENSP00000483211.1:p.Thr1979= | |
| NM_022124.5:c.5937G>A | NP_071407.4:p.Thr1979= | |
| XM_006717940.2:c.6132G>A | XP_006718003.1:p.Thr2044= | |
| XM_006717942.2:c.6066G>A | XP_006718005.1:p.Thr2022= | |
| XM_011540039.1:c.6129G>A | XP_011538341.1:p.Thr2043= | |
| XM_011540040.1:c.6126G>A | XP_011538342.1:p.Thr2042= | |
| XM_011540041.1:c.6072G>A | XP_011538343.1:p.Thr2024= | |
| XM_011540042.1:c.6132G>A | XP_011538344.1:p.Thr2044= | |
| XM_011540043.1:c.6132G>A | XP_011538345.1:p.Thr2044= | |
| XM_011540044.1:c.5997G>A | XP_011538346.1:p.Thr1999= | |
| XM_011540045.1:c.6132G>A | XP_011538347.1:p.Thr2044= | |
| XM_011540046.1:c.5592G>A | XP_011538348.1:p.Thr1864= | |
| XM_011540047.1:c.4950G>A | XP_011538349.1:p.Thr1650= | |
| XM_011540048.1:c.6132G>A | XP_011538350.1:p.Thr2044= | |
| XM_011540049.1:c.6132G>A | XP_011538351.1:p.Thr2044= | |
| XM_011540050.1:c.6132G>A | XP_011538352.1:p.Thr2044= | |
| XM_011540051.1:c.6132G>A | XP_011538353.1:p.Thr2044= | |
| XM_011540052.1:c.2460G>A | XP_011538354.1:p.Thr820= | |
| XR_945796.1:n.6375G>A | ||
| NM_022124.6:c.5937G>A MANE Select | NP_071407.4:p.Thr1979= |