Linked Data
ClinVar Variation Id:
48383
dbSNP Id:
rs148447919
ExAC:
1:216497659 T / C
gnomAD v2:
1-216497659-T-C
gnomAD v3:
1-216324317-T-C
gnomAD v4:
1-216324317-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216324317T>C , CM000663.2:g.216324317T>C | GRCh38 |
| NC_000001.10:g.216497659T>C , CM000663.1:g.216497659T>C | GRCh37 |
| NC_000001.9:g.214564282T>C | NCBI36 |
| NG_009497.1:g.104080A>G | |
| NG_009497.2:g.104132A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.1179A>G MANE Select | ENSP00000305941.3:p.Gln393= | |
| ENST00000674083.1:c.1179A>G | ENSP00000501296.1:p.Gln393= | |
| ENST00000307340.7:c.1179A>G | ENSP00000305941.3:p.Gln393= | |
| ENST00000366942.3:c.1179A>G | ENSP00000355909.3:p.Gln393= | |
| NM_007123.5:c.1179A>G | NP_009054.5:p.Gln393= | |
| NM_206933.2:c.1179A>G | NP_996816.2:p.Gln393= | |
| NM_206933.3:c.1179A>G | NP_996816.2:p.Gln393= | |
| NM_007123.6:c.1179A>G | NP_009054.6:p.Gln393= | |
| NM_206933.4:c.1179A>G MANE Select | NP_996816.3:p.Gln393= |