Linked Data
ClinVar Variation Id:
3185083
ClinVar RCV Id:
RCV004483934
dbSNP Id:
rs1040135367
gnomAD v2:
7-19156882-C-G
gnomAD v3:
7-19117259-C-G
gnomAD v4:
7-19117259-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117259C>G , CM000669.2:g.19117259C>G | GRCh38 |
| NC_000007.13:g.19156882C>G , CM000669.1:g.19156882C>G | GRCh37 |
| NC_000007.12:g.19123407C>G | NCBI36 |
| NG_008114.1:g.5414G>C | |
| NG_008114.2:g.5414G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.63G>C MANE Select | ENSP00000242261.5:p.Glu21Asp | |
| ENST00000242261.5:c.63G>C | ENSP00000242261.5:p.Glu21Asp | |
| NM_000474.3:c.63G>C | NP_000465.1:p.Glu21Asp | |
| XM_011515496.1:c.63G>C | XP_011513798.1:p.Glu21Asp | |
| NR_149001.1:n.414G>C | ||
| NM_000474.4:c.63G>C MANE Select | NP_000465.1:p.Glu21Asp | |
| NR_149001.2:n.378G>C |