Linked Data
ClinVar Variation Id:
1014464
ClinVar RCV Id:
RCV001313204
dbSNP Id:
rs1230428800
gnomAD v2:
7-19156629-G-C
gnomAD v3:
7-19117006-G-C
gnomAD v4:
7-19117006-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117006G>C , CM000669.2:g.19117006G>C | GRCh38 |
| NC_000007.13:g.19156629G>C , CM000669.1:g.19156629G>C | GRCh37 |
| NC_000007.12:g.19123154G>C | NCBI36 |
| NG_008114.1:g.5667C>G | |
| NG_008114.2:g.5667C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.316C>G MANE Select | ENSP00000242261.5:p.Leu106Val | |
| ENST00000242261.5:c.316C>G | ENSP00000242261.5:p.Leu106Val | |
| ENST00000354571.5:c.113C>G | ||
| NM_000474.3:c.316C>G | NP_000465.1:p.Leu106Val | |
| XM_011515496.1:c.316C>G | XP_011513798.1:p.Leu106Val | |
| NR_149001.1:n.667C>G | ||
| NM_000474.4:c.316C>G MANE Select | NP_000465.1:p.Leu106Val | |
| NR_149001.2:n.631C>G |