Linked Data
ClinVar Variation Id:
1985119
ClinVar RCV Id:
RCV002756978
dbSNP Id:
rs1839712910
gnomAD v4:
10-71740803-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71740803G>A , CM000672.2:g.71740803G>A | GRCh38 |
| NC_000010.10:g.73500560G>A , CM000672.1:g.73500560G>A | GRCh37 |
| NC_000010.9:g.73170566G>A | NCBI36 |
| NG_008835.1:g.348857G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4489-19G>A MANE Select | ENSP00000224721.9:n.4489-19G>A | |
| ENST00000224721.10:c.4504-19G>A | ENSP00000224721.8:n.4504-19G>A | |
| ENST00000398792.3:n.1178-19G>A | ||
| ENST00000622827.4:c.4489-19G>A | ENSP00000483211.1:n.4489-19G>A | |
| NM_022124.5:c.4489-19G>A | NP_071407.4:n.4489-19G>A | |
| XM_006717940.2:c.4684-19G>A | XP_006718003.1:n.4684-19G>A | |
| XM_006717942.2:c.4618-19G>A | XP_006718005.1:n.4618-19G>A | |
| XM_011540039.1:c.4681-19G>A | XP_011538341.1:n.4681-19G>A | |
| XM_011540040.1:c.4678-19G>A | XP_011538342.1:n.4678-19G>A | |
| XM_011540041.1:c.4624-19G>A | XP_011538343.1:n.4624-19G>A | |
| XM_011540042.1:c.4684-19G>A | XP_011538344.1:n.4684-19G>A | |
| XM_011540043.1:c.4684-19G>A | XP_011538345.1:n.4684-19G>A | |
| XM_011540044.1:c.4549-19G>A | XP_011538346.1:n.4549-19G>A | |
| XM_011540045.1:c.4684-19G>A | XP_011538347.1:n.4684-19G>A | |
| XM_011540046.1:c.4144-19G>A | XP_011538348.1:n.4144-19G>A | |
| XM_011540047.1:c.3502-19G>A | XP_011538349.1:n.3502-19G>A | |
| XM_011540048.1:c.4684-19G>A | XP_011538350.1:n.4684-19G>A | |
| XM_011540049.1:c.4684-19G>A | XP_011538351.1:n.4684-19G>A | |
| XM_011540050.1:c.4684-19G>A | XP_011538352.1:n.4684-19G>A | |
| XM_011540051.1:c.4684-19G>A | XP_011538353.1:n.4684-19G>A | |
| XM_011540052.1:c.1012-19G>A | XP_011538354.1:n.1012-19G>A | |
| XM_011540053.1:c.4684-19G>A | XP_011538355.1:n.4684-19G>A | |
| XR_945796.1:n.4927-19G>A | ||
| NM_022124.6:c.4489-19G>A MANE Select | NP_071407.4:n.4489-19G>A |