Linked Data
ClinVar Variation Id:
3098651
ClinVar RCV Id:
RCV004395016
dbSNP Id:
rs142735570
ExAC:
12:100994194 G / A
gnomAD v2:
12-100994194-G-A
gnomAD v3:
12-100600416-G-A
gnomAD v4:
12-100600416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100600416G>A , CM000674.2:g.100600416G>A | GRCh38 |
| NC_000012.11:g.100994194G>A , CM000674.1:g.100994194G>A | GRCh37 |
| NC_000012.10:g.99518325G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547754.6:c.53G>A MANE Select | ENSP00000448955.1:p.Arg18Gln | |
| ENST00000266754.9:c.53G>A | ENSP00000266754.5:p.Arg18Gln | |
| ENST00000537247.5:c.-516G>A | ENSP00000442406.1:n.-516G>A | |
| ENST00000539410.2:c.53G>A | ENSP00000439672.1:p.Arg18Gln | |
| ENST00000547754.5:c.53G>A | ENSP00000448955.1:p.Arg18Gln | |
| ENST00000550295.1:c.53G>A | ENSP00000448184.1:p.Arg18Gln | |
| NM_001303130.1:c.53G>A | NP_001290059.1:p.Arg18Gln | |
| NM_001303131.1:c.-516G>A | NP_001290060.1:n.-516G>A | |
| NM_174942.2:c.53G>A | NP_777602.1:p.Arg18Gln | |
| XM_005268804.2:c.53G>A | XP_005268861.1:p.Arg18Gln | |
| XM_011538219.1:c.53G>A | XP_011536521.1:p.Arg18Gln | |
| XM_011538220.1:c.53G>A | XP_011536522.1:p.Arg18Gln | |
| XM_011538221.1:c.53G>A | XP_011536523.1:p.Arg18Gln | |
| NM_001363672.1:c.53G>A | NP_001350601.1:p.Arg18Gln | |
| XM_005268804.3:c.53G>A | XP_005268861.1:p.Arg18Gln | |
| XM_011538220.2:c.53G>A | XP_011536522.1:p.Arg18Gln | |
| XM_011538221.2:c.53G>A | XP_011536523.1:p.Arg18Gln | |
| XM_017019206.1:c.53G>A | XP_016874695.1:p.Arg18Gln | |
| NM_174942.3:c.53G>A MANE Select | NP_777602.1:p.Arg18Gln | |
| NM_001303130.2:c.53G>A | NP_001290059.1:p.Arg18Gln | |
| NM_001363672.2:c.53G>A | NP_001350601.1:p.Arg18Gln | |
| NM_001303131.2:c.-516G>A | NP_001290060.1:n.-516G>A |