Linked Data
ClinVar Variation Id:
39801
ClinVar RCV Id:
RCV000033022
dbSNP Id:
rs397514598
gnomAD v4:
2-55667007-T-C
PubMed:
PMID:23084291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55667007T>C , CM000664.2:g.55667007T>C | GRCh38 |
| NC_000002.11:g.55894142T>C , CM000664.1:g.55894142T>C | GRCh37 |
| NC_000002.10:g.55747646T>C | NCBI36 |
| NG_033012.1:g.31904A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447944.7:c.1160A>G MANE Select | ENSP00000400646.2:p.Gln387Arg | |
| ENST00000260604.8:c.*715A>G | ENSP00000260604.4:n.*715A>G | |
| ENST00000415374.5:c.1160A>G | ENSP00000393953.1:p.Gln387Arg | |
| ENST00000415489.1:c.234A>G | ||
| ENST00000447944.6:c.1160A>G | ENSP00000400646.2:p.Gln387Arg | |
| NM_033109.4:c.1160A>G | NP_149100.2:p.Gln387Arg | |
| XM_005264629.1:c.920A>G | XP_005264686.1:p.Gln307Arg | |
| XM_011533142.1:c.1160A>G | XP_011531444.1:p.Gln387Arg | |
| XM_005264629.2:c.920A>G | XP_005264686.1:p.Gln307Arg | |
| XM_017005172.1:c.920A>G | XP_016860661.1:p.Gln307Arg | |
| XR_001739010.1:n.1190A>G | ||
| NM_033109.5:c.1160A>G MANE Select | NP_149100.2:p.Gln387Arg |