Linked Data
ClinVar Variation Id:
333440
dbSNP Id:
rs535121774
ExAC:
2:202082361 G / A
gnomAD v2:
2-202082361-G-A
gnomAD v3:
2-201217638-G-A
gnomAD v4:
2-201217638-G-A
COSMIC:
COSM2907018
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201217638G>A , CM000664.2:g.201217638G>A | GRCh38 |
| NC_000002.11:g.202082361G>A , CM000664.1:g.202082361G>A | GRCh37 |
| NC_000002.10:g.201790606G>A | NCBI36 |
| NG_007265.1:g.39507G>A , LRG_33:g.39507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313728.12:c.1265G>A | ENSP00000314599.7:p.Arg422Gln | |
| ENST00000346817.10:c.1337G>A | ENSP00000237865.7:p.Arg446Gln | |
| ENST00000492363.6:c.*552G>A | ENSP00000512459.1:n.*552G>A | |
| ENST00000696199.1:c.722-11292G>A | ENSP00000512481.1:n.722-11292G>A | |
| ENST00000286186.11:c.1466G>A MANE Select | ENSP00000286186.6:p.Arg489Gln | |
| ENST00000272879.9:c.1415+8076G>A | ENSP00000272879.5:n.1415+8076G>A | |
| ENST00000286186.10:c.1466G>A | ENSP00000286186.6:p.Arg489Gln | |
| ENST00000313728.11:c.1265G>A | ENSP00000314599.7:p.Arg422Gln | |
| ENST00000346817.9:c.1337G>A | ENSP00000237865.7:p.Arg446Gln | |
| ENST00000360132.7:c.*552G>A | ENSP00000353250.3:n.*552G>A | |
| ENST00000448480.1:c.1286+8076G>A | ENSP00000396835.1:n.1286+8076G>A | |
| ENST00000492363.5:n.1374G>A | ||
| NM_001206524.1:c.1265G>A | NP_001193453.1:p.Arg422Gln | |
| NM_001206542.1:c.1286+8076G>A | NP_001193471.1:n.1286+8076G>A | |
| NM_001230.4:c.1337G>A | NP_001221.2:p.Arg446Gln | |
| NM_032974.4:c.1415+8076G>A | NP_116756.2:n.1415+8076G>A | |
| NM_032976.3:c.*552G>A | NP_116758.1:n.*552G>A | |
| NM_032977.3:c.1466G>A , LRG_33t1:c.1466G>A | NP_116759.2:p.Arg489Gln | |
| XM_005246907.2:c.1463G>A | XP_005246964.1:p.Arg488Gln | |
| XM_006712796.2:c.716G>A | XP_006712859.1:p.Arg239Gln | |
| XM_006712796.3:c.716G>A | XP_006712859.1:p.Arg239Gln | |
| NM_001206524.2:c.1265G>A | NP_001193453.1:p.Arg422Gln | |
| NM_001206542.2:c.1286+8076G>A | NP_001193471.1:n.1286+8076G>A | |
| NM_001230.5:c.1337G>A | NP_001221.2:p.Arg446Gln | |
| NM_032974.5:c.1415+8076G>A | NP_116756.2:n.1415+8076G>A | |
| NM_032977.4:c.1466G>A MANE Select | NP_116759.2:p.Arg489Gln | |
| NM_032976.4:c.*552G>A | NP_116758.1:n.*552G>A |