Linked Data
ClinVar Variation Id:
2141175
ClinVar RCV Id:
RCV003073882
dbSNP Id:
rs145584701
ExAC:
10:60560007 G / A
gnomAD v2:
10-60560007-G-A
gnomAD v3:
10-58800247-G-A
gnomAD v4:
10-58800247-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58800247G>A , CM000672.2:g.58800247G>A | GRCh38 |
| NC_000010.10:g.60560007G>A , CM000672.1:g.60560007G>A | GRCh37 |
| NC_000010.9:g.60230013G>A | NCBI36 |
| NG_029759.2:g.292104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373886.8:c.1779G>A MANE Select | ENSP00000362993.3:p.Val593= | |
| ENST00000263103.1:c.657G>A | ENSP00000263103.1:p.Val219= | |
| ENST00000373886.7:c.1779G>A | ENSP00000362993.3:p.Val593= | |
| NM_001080512.2:c.1779G>A | NP_001073981.1:p.Val593= | |
| XM_005270169.3:c.1638G>A | XP_005270226.1:p.Val546= | |
| XM_011540185.1:c.1851G>A | XP_011538487.1:p.Val617= | |
| XM_011540186.1:c.1851G>A | XP_011538488.1:p.Val617= | |
| XM_011540187.1:c.1851G>A | XP_011538489.1:p.Val617= | |
| XM_011540188.1:c.1635G>A | XP_011538490.1:p.Val545= | |
| XM_011540189.1:c.1623G>A | XP_011538491.1:p.Val541= | |
| XM_011540190.1:c.1539G>A | XP_011538492.1:p.Val513= | |
| XM_011540191.1:c.1395G>A | XP_011538493.1:p.Val465= | |
| XM_005270169.5:c.1638G>A | XP_005270226.1:p.Val546= | |
| XM_011540185.2:c.1851G>A | XP_011538487.1:p.Val617= | |
| XM_011540190.3:c.1539G>A | XP_011538492.1:p.Val513= | |
| XM_011540191.2:c.1395G>A | XP_011538493.1:p.Val465= | |
| XM_017016677.1:c.1647G>A | XP_016872166.1:p.Val549= | |
| XM_017016678.1:c.1635G>A | XP_016872167.1:p.Val545= | |
| XM_024448174.1:c.1866G>A | XP_024303942.1:p.Val622= | |
| XM_024448175.1:c.1539G>A | XP_024303943.1:p.Val513= | |
| NM_001080512.3:c.1779G>A MANE Select | NP_001073981.1:p.Val593= |