Linked Data
ClinVar Variation Id:
366565
dbSNP Id:
rs148620735
ExAC:
9:32542176 C / G
gnomAD v2:
9-32542176-C-G
gnomAD v3:
9-32542178-C-G
gnomAD v4:
9-32542178-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32542178C>G , CM000671.2:g.32542178C>G | GRCh38 |
| NC_000009.11:g.32542176C>G , CM000671.1:g.32542176C>G | GRCh37 |
| NC_000009.10:g.32532176C>G | NCBI36 |
| NG_017050.1:g.15447G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.2347G>C MANE Select | ENSP00000353735.2:p.Gly783Arg | |
| ENST00000680198.1:c.198+8596G>C | ENSP00000505143.1:n.198+8596G>C | |
| ENST00000681750.1:c.-45+8596G>C | ENSP00000506413.1:n.-45+8596G>C | |
| ENST00000360538.6:c.2347G>C | ENSP00000353735.2:p.Gly783Arg | |
| ENST00000379858.1:c.2152G>C | ENSP00000369187.1:p.Gly718Arg | |
| NM_001195622.1:c.2152G>C | NP_001182551.1:p.Gly718Arg | |
| NM_005802.4:c.2347G>C | NP_005793.2:p.Gly783Arg | |
| NM_005802.5:c.2347G>C MANE Select | NP_005793.2:p.Gly783Arg | |
| NM_001195622.2:c.2152G>C | NP_001182551.1:p.Gly718Arg |