Linked Data
ClinVar Variation Id:
2157673
ClinVar RCV Id:
RCV003079640
dbSNP Id:
rs1595773441
gnomAD v4:
15-40411663-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40411663G>A , CM000677.2:g.40411663G>A | GRCh38 |
| NC_000015.9:g.40703862G>A , CM000677.1:g.40703862G>A | GRCh37 |
| NC_000015.8:g.38491154G>A | NCBI36 |
| NG_011986.1:g.11177G>A | |
| NG_011986.2:g.11179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479013.7:c.569G>A | ENSP00000417990.3:p.Arg190Gln | |
| ENST00000487418.8:c.659G>A MANE Select | ENSP00000418397.3:p.Arg220Gln | |
| ENST00000650656.1:c.578G>A | ENSP00000498731.1:p.Arg193Gln | |
| ENST00000651168.1:c.668G>A | ENSP00000499074.1:p.Arg223Gln | |
| ENST00000473112.6:c.418G>A | ||
| ENST00000479013.6:c.578G>A | ENSP00000417990.2:p.Arg193Gln | |
| ENST00000481262.6:c.265G>A | ||
| ENST00000484250.1:n.282G>A | ||
| ENST00000487418.6:c.668G>A | ENSP00000418397.2:p.Arg223Gln | |
| ENST00000491554.6:c.56G>A | ENSP00000453146.1:p.Arg19Gln | |
| ENST00000558610.5:c.611G>A | ENSP00000453821.1:p.Arg204Gln | |
| NM_001159508.1:c.578G>A | NP_001152980.1:p.Arg193Gln | |
| NM_002225.3:c.668G>A | NP_002216.2:p.Arg223Gln | |
| XM_005254350.2:c.668G>A | XP_005254407.1:p.Arg223Gln | |
| XM_005254356.2:c.668G>A | XP_005254413.1:p.Arg223Gln | |
| XM_006720491.2:c.611G>A | XP_006720554.1:p.Arg204Gln | |
| XM_006720492.2:c.668G>A | XP_006720555.1:p.Arg223Gln | |
| XM_006720493.2:c.668G>A | XP_006720556.1:p.Arg223Gln | |
| XM_006720494.2:c.668G>A | XP_006720557.1:p.Arg223Gln | |
| XM_006720495.2:c.668G>A | XP_006720558.1:p.Arg223Gln | |
| XM_011521523.1:c.668G>A | XP_011519825.1:p.Arg223Gln | |
| XM_011521524.1:c.668G>A | XP_011519826.1:p.Arg223Gln | |
| XR_243097.3:n.668G>A | ||
| XR_243098.2:n.668G>A | ||
| XR_429453.2:n.769G>A | ||
| NM_001159508.2:c.569G>A | NP_001152980.2:p.Arg190Gln | |
| NM_001354597.2:c.611G>A | NP_001341526.1:p.Arg204Gln | |
| NM_001354598.2:c.659G>A | NP_001341527.2:p.Arg220Gln | |
| NM_001354599.2:c.746G>A | NP_001341528.2:p.Arg249Gln | |
| NM_001354600.2:c.746G>A | NP_001341529.2:p.Arg249Gln | |
| NM_001354601.2:c.659G>A | NP_001341530.2:p.Arg220Gln | |
| NM_002225.4:c.659G>A | NP_002216.3:p.Arg220Gln | |
| NR_148925.1:n.1069G>A | ||
| XM_006720495.3:c.668G>A | XP_006720558.1:p.Arg223Gln | |
| XM_017022149.1:c.755G>A | XP_016877638.1:p.Arg252Gln | |
| XM_017022150.1:c.755G>A | XP_016877639.1:p.Arg252Gln | |
| XM_017022153.1:c.755G>A | XP_016877642.1:p.Arg252Gln | |
| XM_017022154.2:c.698G>A | XP_016877643.1:p.Arg233Gln | |
| XM_017022155.2:c.755G>A | XP_016877644.1:p.Arg252Gln | |
| XM_017022157.1:c.755G>A | XP_016877646.1:p.Arg252Gln | |
| XM_017022158.2:c.755G>A | XP_016877647.1:p.Arg252Gln | |
| XR_001751263.1:n.1018G>A | ||
| XR_001751264.1:n.1059G>A | ||
| NM_001159508.3:c.569G>A | NP_001152980.2:p.Arg190Gln | |
| NM_001354597.3:c.611G>A | NP_001341526.1:p.Arg204Gln | |
| NM_001354598.3:c.659G>A | NP_001341527.2:p.Arg220Gln | |
| NM_001354599.3:c.746G>A | NP_001341528.2:p.Arg249Gln | |
| NM_001354600.3:c.746G>A | NP_001341529.2:p.Arg249Gln | |
| NM_001354601.3:c.659G>A | NP_001341530.2:p.Arg220Gln | |
| NM_002225.5:c.659G>A MANE Select | NP_002216.3:p.Arg220Gln | |
| NR_148925.2:n.1071G>A |