Linked Data
ClinVar Variation Id:
2712728
ClinVar RCV Id:
RCV003537593
dbSNP Id:
rs1482253111
gnomAD v2:
7-21639422-C-G
gnomAD v3:
7-21599804-C-G
gnomAD v4:
7-21599804-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21599804C>G , CM000669.2:g.21599804C>G | GRCh38 |
| NC_000007.13:g.21639422C>G , CM000669.1:g.21639422C>G | GRCh37 |
| NC_000007.12:g.21605947C>G | NCBI36 |
| NG_012886.2:g.61590C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.2685C>G MANE Select | ENSP00000475939.1:p.Phe895Leu | |
| ENST00000328843.10:c.2685C>G | ENSP00000330671.7:p.Phe895Leu | |
| ENST00000409508.7:c.2685C>G | ENSP00000475939.1:p.Phe895Leu | |
| ENST00000620169.4:c.2685C>G | ENSP00000481693.1:p.Phe895Leu | |
| NM_001277115.1:c.2685C>G | NP_001264044.1:p.Phe895Leu | |
| NM_001277115.2:c.2685C>G MANE Select | NP_001264044.1:p.Phe895Leu |