Linked Data
ClinVar Variation Id:
803139
ClinVar RCV Id:
RCV000989401
dbSNP Id:
rs1596427970
gnomAD v4:
15-92978331-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.92978331A>G , CM000677.2:g.92978331A>G | GRCh38 |
| NC_000015.9:g.93521561A>G , CM000677.1:g.93521561A>G | GRCh37 |
| NC_000015.8:g.91322565A>G | NCBI36 |
| NG_012826.1:g.83011A>G | |
| NG_012826.2:g.83011A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625662.3:c.2182A>G | ||
| ENST00000628118.2:c.1709A>G | ||
| ENST00000700551.1:c.*1506A>G | ENSP00000515057.1:n.*1506A>G | |
| ENST00000394196.9:c.2675A>G MANE Select | ENSP00000377747.4:p.Gln892Arg | |
| ENST00000635856.1:n.3247A>G | ||
| ENST00000636306.1:n.235A>G | ||
| ENST00000636881.1:c.2046A>G | ||
| ENST00000637572.1:n.3419A>G | ||
| ENST00000394196.8:c.2675A>G | ENSP00000377747.4:p.Gln892Arg | |
| ENST00000625463.1:c.215A>G | ENSP00000486391.1:p.Gln72Arg | |
| ENST00000626874.2:c.2675A>G | ENSP00000486629.1:p.Gln892Arg | |
| ENST00000628118.1:n.454A>G | ||
| NM_001271.3:c.2675A>G | NP_001262.3:p.Gln892Arg | |
| NM_001271.4:c.2675A>G MANE Select | NP_001262.3:p.Gln892Arg |