Linked Data
ClinVar Variation Id:
45989
dbSNP Id:
rs397517342
ExAC:
10:73544857 G / A
gnomAD v2:
10-73544857-G-A
gnomAD v3:
10-71785100-G-A
gnomAD v4:
10-71785100-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71785100G>A , CM000672.2:g.71785100G>A | GRCh38 |
| NC_000010.10:g.73544857G>A , CM000672.1:g.73544857G>A | GRCh37 |
| NC_000010.9:g.73214863G>A | NCBI36 |
| NG_008835.1:g.393154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5712G>A MANE Select | ENSP00000224721.9:p.Thr1904= | |
| ENST00000224721.10:c.5727G>A | ENSP00000224721.8:p.Thr1909= | |
| ENST00000622827.4:c.5712G>A | ENSP00000483211.1:p.Thr1904= | |
| NM_022124.5:c.5712G>A | NP_071407.4:p.Thr1904= | |
| XM_006717940.2:c.5907G>A | XP_006718003.1:p.Thr1969= | |
| XM_006717942.2:c.5841G>A | XP_006718005.1:p.Thr1947= | |
| XM_011540039.1:c.5904G>A | XP_011538341.1:p.Thr1968= | |
| XM_011540040.1:c.5901G>A | XP_011538342.1:p.Thr1967= | |
| XM_011540041.1:c.5847G>A | XP_011538343.1:p.Thr1949= | |
| XM_011540042.1:c.5907G>A | XP_011538344.1:p.Thr1969= | |
| XM_011540043.1:c.5907G>A | XP_011538345.1:p.Thr1969= | |
| XM_011540044.1:c.5772G>A | XP_011538346.1:p.Thr1924= | |
| XM_011540045.1:c.5907G>A | XP_011538347.1:p.Thr1969= | |
| XM_011540046.1:c.5367G>A | XP_011538348.1:p.Thr1789= | |
| XM_011540047.1:c.4725G>A | XP_011538349.1:p.Thr1575= | |
| XM_011540048.1:c.5907G>A | XP_011538350.1:p.Thr1969= | |
| XM_011540049.1:c.5907G>A | XP_011538351.1:p.Thr1969= | |
| XM_011540050.1:c.5907G>A | XP_011538352.1:p.Thr1969= | |
| XM_011540051.1:c.5907G>A | XP_011538353.1:p.Thr1969= | |
| XM_011540052.1:c.2235G>A | XP_011538354.1:p.Thr745= | |
| XM_011540053.1:c.5907G>A | XP_011538355.1:p.Thr1969= | |
| XR_945796.1:n.6150G>A | ||
| NM_022124.6:c.5712G>A MANE Select | NP_071407.4:p.Thr1904= |