Linked Data
ClinVar Variation Id:
1330064
ClinVar RCV Id:
RCV001801081
dbSNP Id:
rs61750597
ExAC:
12:6127580 C / T
gnomAD v2:
12-6127580-C-T
gnomAD v3:
12-6018414-C-T
gnomAD v4:
12-6018414-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6018414C>T , CM000674.2:g.6018414C>T | GRCh38 |
| NC_000012.11:g.6127580C>T , CM000674.1:g.6127580C>T | GRCh37 |
| NC_000012.10:g.5997841C>T | NCBI36 |
| NG_009072.1:g.111257G>A | |
| NG_009072.2:g.111257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5004G>A MANE Select | ENSP00000261405.5:p.Arg1668= | |
| ENST00000261405.9:c.5004G>A | ENSP00000261405.5:p.Arg1668= | |
| ENST00000538635.5:n.421-24480G>A | ||
| NM_000552.3:c.5004G>A | NP_000543.2:p.Arg1668= | |
| NM_000552.4:c.5004G>A | NP_000543.2:p.Arg1668= | |
| NM_000552.5:c.5004G>A MANE Select | NP_000543.3:p.Arg1668= |