Linked Data
ClinVar Variation Id:
291166
ClinVar RCV Id:
RCV000319239
dbSNP Id:
rs149116506
ExAC:
12:6173514 C / T
gnomAD v2:
12-6173514-C-T
gnomAD v3:
12-6064348-C-T
gnomAD v4:
12-6064348-C-T
MyVariant Identifiers:
chr12:g.6173514C>T (hg19)
chr12:g.6173514_6173515delinsTG (hg19)
chr12:g.6064348C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6064348C>T , CM000674.2:g.6064348C>T | GRCh38 |
| NC_000012.11:g.6173514C>T , CM000674.1:g.6173514C>T | GRCh37 |
| NC_000012.10:g.6043775C>T | NCBI36 |
| NG_009072.1:g.65323G>A | |
| NG_009072.2:g.65323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1330G>A MANE Select | ENSP00000261405.5:p.Val444Ile | |
| ENST00000261405.9:c.1330G>A | ENSP00000261405.5:p.Val444Ile | |
| ENST00000538635.5:n.420+46167G>A | ||
| NM_000552.3:c.1330G>A | NP_000543.2:p.Val444Ile | |
| NM_000552.4:c.1330G>A | NP_000543.2:p.Val444Ile | |
| NM_000552.5:c.1330G>A MANE Select | NP_000543.3:p.Val444Ile |