Linked Data
ClinVar Variation Id:
1289953
ClinVar RCV Id:
RCV001716488
dbSNP Id:
rs10260230
gnomAD v2:
7-40172997-T-C
gnomAD v3:
7-40133398-T-C
gnomAD v4:
7-40133398-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40133398T>C , CM000669.2:g.40133398T>C | GRCh38 |
| NC_000007.13:g.40172997T>C , CM000669.1:g.40172997T>C | GRCh37 |
| NC_000007.12:g.40139522T>C | NCBI36 |
| NG_016989.2:g.6255A>G | |
| NG_023422.1:g.3423T>C | |
| NG_023422.2:g.3423T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306984.8:c.340-139A>G MANE Select | ENSP00000304553.5:n.340-139A>G | |
| ENST00000306984.6:c.340-139A>G | ENSP00000304553.5:n.340-139A>G | |
| NM_138701.3:c.340-139A>G | NP_619646.1:n.340-139A>G | |
| NM_138701.4:c.340-139A>G MANE Select | NP_619646.1:n.340-139A>G |