Linked Data
ClinVar Variation Id:
65679
ClinVar RCV Id:
RCV000055905
dbSNP Id:
rs397515551
PubMed:
PMID:23805436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21977174A>G , CM000685.2:g.21977174A>G | GRCh38 |
| NC_000023.10:g.21995292A>G , CM000685.1:g.21995292A>G | GRCh37 |
| NC_000023.9:g.21905213A>G | NCBI36 |
| NG_009228.1:g.41451A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457085.2:c.788A>G | ENSP00000407366.2:p.Gln263Arg | |
| ENST00000404933.7:c.443A>G MANE Select | ENSP00000385746.2:p.Gln148Arg | |
| ENST00000379404.5:c.284A>G | ENSP00000368714.1:p.Gln95Arg | |
| ENST00000404933.6:c.443A>G | ENSP00000385746.2:p.Gln148Arg | |
| ENST00000457085.1:c.717A>G | ||
| ENST00000478094.1:n.396A>G | ||
| NM_001258423.1:c.284A>G | NP_001245352.1:p.Gln95Arg | |
| NM_004595.4:c.443A>G | NP_004586.2:p.Gln148Arg | |
| XM_005274582.1:c.341A>G | XP_005274639.1:p.Gln114Arg | |
| XM_011545568.1:c.341A>G | XP_011543870.1:p.Gln114Arg | |
| XM_005274582.2:c.341A>G | XP_005274639.1:p.Gln114Arg | |
| XM_011545568.2:c.341A>G | XP_011543870.1:p.Gln114Arg | |
| XM_017029753.2:c.443A>G | XP_016885242.1:p.Gln148Arg | |
| XM_017029754.1:c.341A>G | XP_016885243.1:p.Gln114Arg | |
| XM_017029755.1:c.341A>G | XP_016885244.1:p.Gln114Arg | |
| XM_024452427.1:c.341A>G | XP_024308195.1:p.Gln114Arg | |
| NM_004595.5:c.443A>G MANE Select | NP_004586.2:p.Gln148Arg | |
| NM_001258423.2:c.284A>G | NP_001245352.1:p.Gln95Arg |