Linked Data
ClinVar Variation Id:
454667
ClinVar RCV Id:
RCV000526627
dbSNP Id:
rs1427132712
gnomAD v2:
7-21631043-C-G
gnomAD v3:
7-21591425-C-G
gnomAD v4:
7-21591425-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21591425C>G , CM000669.2:g.21591425C>G | GRCh38 |
| NC_000007.13:g.21631043C>G , CM000669.1:g.21631043C>G | GRCh37 |
| NC_000007.12:g.21597568C>G | NCBI36 |
| NG_012886.2:g.53211C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.2515C>G MANE Select | ENSP00000475939.1:p.Gln839Glu | |
| ENST00000328843.10:c.2515C>G | ENSP00000330671.7:p.Gln839Glu | |
| ENST00000409508.7:c.2515C>G | ENSP00000475939.1:p.Gln839Glu | |
| ENST00000620169.4:c.2515C>G | ENSP00000481693.1:p.Gln839Glu | |
| NM_001277115.1:c.2515C>G | NP_001264044.1:p.Gln839Glu | |
| NM_001277115.2:c.2515C>G MANE Select | NP_001264044.1:p.Gln839Glu |