Linked Data
dbSNP Id:
rs774345791
ExAC:
12:53701415 C / T
gnomAD v2:
12-53701415-C-T
gnomAD v3:
12-53307631-C-T
gnomAD v4:
12-53307631-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307631C>T , CM000674.2:g.53307631C>T | GRCh38 |
| NC_000012.11:g.53701415C>T , CM000674.1:g.53701415C>T | GRCh37 |
| NC_000012.10:g.51987682C>T | NCBI36 |
| NG_016775.1:g.18998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1499G>A MANE Select | ENSP00000209873.4:p.Arg500Gln | |
| ENST00000546562.6:n.2563G>A | ||
| ENST00000547238.6:n.2135G>A | ||
| ENST00000547520.6:n.1615G>A | ||
| ENST00000547757.2:c.*417G>A | ENSP00000448020.2:n.*417G>A | |
| ENST00000548931.6:c.934G>A | ENSP00000457518.1:p.Gly312Arg | |
| ENST00000549450.6:n.1433G>A | ||
| ENST00000672797.1:n.1988G>A | ||
| ENST00000209873.8:c.1499G>A | ENSP00000209873.4:p.Arg500Gln | |
| ENST00000394384.7:c.1400G>A | ENSP00000377908.3:p.Arg467Gln | |
| ENST00000548931.5:c.934G>A | ENSP00000457518.1:p.Gly312Arg | |
| ENST00000550286.5:c.1127G>A | ENSP00000446885.1:p.Arg376Gln | |
| ENST00000552876.5:n.1842G>A | ||
| NM_001173466.1:c.1400G>A | NP_001166937.1:p.Arg467Gln | |
| NM_015665.5:c.1499G>A | NP_056480.1:p.Arg500Gln | |
| XM_006719617.2:c.1514G>A | XP_006719680.1:p.Arg505Gln | |
| XM_011538777.1:c.1556G>A | XP_011537079.1:p.Arg519Gln | |
| XM_011538778.1:c.1541G>A | XP_011537080.1:p.Arg514Gln | |
| XM_011538779.1:c.1457G>A | XP_011537081.1:p.Arg486Gln | |
| XM_011538780.1:c.1442G>A | XP_011537082.1:p.Arg481Gln | |
| XM_011538781.1:c.890G>A | XP_011537083.1:p.Arg297Gln | |
| XM_011538778.2:c.1541G>A | XP_011537080.1:p.Arg514Gln | |
| XM_011538780.2:c.1442G>A | XP_011537082.1:p.Arg481Gln | |
| XR_001748875.2:n.1556G>A | ||
| NM_015665.6:c.1499G>A MANE Select | NP_056480.1:p.Arg500Gln | |
| NM_001173466.2:c.1400G>A | NP_001166937.1:p.Arg467Gln |