Linked Data
ClinVar Variation Id:
195657
dbSNP Id:
rs1800380
ExAC:
12:6138595 C / T
gnomAD v2:
12-6138595-C-T
gnomAD v3:
12-6029429-C-T
gnomAD v4:
12-6029429-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6029429C>T , CM000674.2:g.6029429C>T | GRCh38 |
| NC_000012.11:g.6138595C>T , CM000674.1:g.6138595C>T | GRCh37 |
| NC_000012.10:g.6008856C>T | NCBI36 |
| NG_009072.1:g.100242G>A | |
| NG_009072.2:g.100242G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.2880G>A MANE Select | ENSP00000261405.5:p.Arg960= | |
| ENST00000261405.9:c.2880G>A | ENSP00000261405.5:p.Arg960= | |
| ENST00000538635.5:n.421-35495G>A | ||
| NM_000552.3:c.2880G>A | NP_000543.2:p.Arg960= | |
| NM_000552.4:c.2880G>A | NP_000543.2:p.Arg960= | |
| NM_000552.5:c.2880G>A MANE Select | NP_000543.3:p.Arg960= |