Linked Data
ClinVar Variation Id:
155929
ClinVar RCV Id:
RCV000144051
dbSNP Id:
rs587777708
PubMed:
PMID:24676634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100749869G>A , CM000672.2:g.100749869G>A | GRCh38 |
| NC_000010.10:g.102509626G>A , CM000672.1:g.102509626G>A | GRCh37 |
| NC_000010.9:g.102499616G>A | NCBI36 |
| NG_008680.1:g.9159G>A | |
| NG_008680.2:g.19161G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707078.1:c.260G>A | ENSP00000516729.1:p.Arg87Gln | |
| ENST00000707079.1:c.167G>A | ENSP00000516730.1:p.Arg56Gln | |
| ENST00000355243.8:c.167G>A MANE Select | ENSP00000347385.3:p.Arg56Gln | |
| ENST00000427256.6:c.167G>A | ENSP00000398652.2:p.Arg56Gln | |
| ENST00000679374.1:c.149G>A | ENSP00000506041.1:p.Arg50Gln | |
| ENST00000355243.7:c.167G>A | ENSP00000347385.2:p.Arg56Gln | |
| ENST00000361791.7:c.164G>A | ENSP00000355069.4:p.Arg55Gln | |
| ENST00000370296.6:c.167G>A | ENSP00000359319.3:p.Arg56Gln | |
| ENST00000427256.5:c.167G>A | ENSP00000398652.1:p.Arg56Gln | |
| ENST00000428433.5:c.167G>A | ENSP00000396259.1:p.Arg56Gln | |
| ENST00000483202.2:n.1169G>A | ||
| ENST00000553492.5:n.131+14136G>A | ||
| ENST00000554172.2:c.179G>A | ENSP00000452489.2:p.Arg60Gln | |
| ENST00000554363.2:n.125+3566G>A | ||
| NM_000278.3:c.167G>A | NP_000269.2:p.Arg56Gln | |
| NM_001304569.1:c.260G>A | NP_001291498.1:p.Arg87Gln | |
| NM_003987.3:c.167G>A | NP_003978.2:p.Arg56Gln | |
| NM_003988.3:c.167G>A | NP_003979.2:p.Arg56Gln | |
| NM_003989.3:c.167G>A | NP_003980.2:p.Arg56Gln | |
| NM_003990.3:c.167G>A | NP_003981.2:p.Arg56Gln | |
| NM_000278.4:c.167G>A | NP_000269.3:p.Arg56Gln | |
| NM_003987.4:c.167G>A | NP_003978.3:p.Arg56Gln | |
| NM_003988.4:c.167G>A | NP_003979.2:p.Arg56Gln | |
| NM_003989.4:c.167G>A | NP_003980.3:p.Arg56Gln | |
| NM_003990.4:c.167G>A | NP_003981.3:p.Arg56Gln | |
| NM_000278.5:c.167G>A MANE Select | NP_000269.3:p.Arg56Gln | |
| NM_001304569.2:c.260G>A | NP_001291498.1:p.Arg87Gln | |
| NM_003987.5:c.167G>A | NP_003978.3:p.Arg56Gln | |
| NM_003988.5:c.167G>A | NP_003979.2:p.Arg56Gln | |
| NM_003989.5:c.167G>A | NP_003980.3:p.Arg56Gln | |
| NM_003990.5:c.167G>A | NP_003981.3:p.Arg56Gln |