Linked Data
ClinVar Variation Id:
1350276
dbSNP Id:
rs1188656521
gnomAD v2:
7-92733348-T-C
gnomAD v3:
7-93104035-T-C
gnomAD v4:
7-93104035-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93104035T>C , CM000669.2:g.93104035T>C | GRCh38 |
| NC_000007.13:g.92733348T>C , CM000669.1:g.92733348T>C | GRCh37 |
| NC_000007.12:g.92571284T>C | NCBI36 |
| NG_023419.1:g.18989A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379958.3:c.2063A>G MANE Select | ENSP00000369292.2:p.Lys688Arg | |
| ENST00000379958.2:c.2063A>G | ENSP00000369292.2:p.Lys688Arg | |
| ENST00000446617.1:c.2063A>G | ENSP00000414529.1:p.Lys688Arg | |
| ENST00000620985.4:c.2063A>G | ENSP00000484636.1:p.Lys688Arg | |
| NM_001193307.1:c.2063A>G | NP_001180236.1:p.Lys688Arg | |
| NM_017654.3:c.2063A>G | NP_060124.2:p.Lys688Arg | |
| NM_017654.4:c.2063A>G MANE Select | NP_060124.2:p.Lys688Arg | |
| NM_001193307.2:c.2063A>G | NP_001180236.1:p.Lys688Arg |