Linked Data
ClinVar Variation Id:
256660
dbSNP Id:
rs1063857
ExAC:
12:6153514 A / G
gnomAD v2:
12-6153514-A-G
gnomAD v3:
12-6044348-A-G
gnomAD v4:
12-6044348-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6044348A>G , CM000674.2:g.6044348A>G | GRCh38 |
| NC_000012.11:g.6153514A>G , CM000674.1:g.6153514A>G | GRCh37 |
| NC_000012.10:g.6023775A>G | NCBI36 |
| NG_009072.1:g.85323T>C | |
| NG_009072.2:g.85323T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.2385T>C MANE Select | ENSP00000261405.5:p.Tyr795= | |
| ENST00000261405.9:c.2385T>C | ENSP00000261405.5:p.Tyr795= | |
| ENST00000538635.5:n.421-50414T>C | ||
| NM_000552.3:c.2385T>C | NP_000543.2:p.Tyr795= | |
| NM_000552.4:c.2385T>C | NP_000543.2:p.Tyr795= | |
| NM_000552.5:c.2385T>C MANE Select | NP_000543.3:p.Tyr795= |