Linked Data
dbSNP Id:
rs1584818992
gnomAD v4:
7-151186463-T-C
MyVariant Identifiers:
chr7:g.150883550T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186463T>C , CM000669.2:g.151186463T>C | GRCh38 |
| NC_000007.13:g.150883550T>C , CM000669.1:g.150883550T>C | GRCh37 |
| NC_000007.12:g.150514483T>C | NCBI36 |
| NG_017016.1:g.6370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.513A>G MANE Select | ENSP00000391137.2:p.Gly171= | |
| ENST00000275838.5:c.513A>G | ENSP00000275838.1:p.Gly171= | |
| ENST00000377867.7:c.468A>G | ENSP00000367098.3:p.Gly156= | |
| ENST00000420175.2:c.513A>G | ENSP00000391137.2:p.Gly171= | |
| NM_001142459.1:c.513A>G | NP_001135931.2:p.Gly171= | |
| NM_001142460.1:c.513A>G | NP_001135932.2:p.Gly171= | |
| NM_080871.3:c.468A>G | NP_543147.2:p.Gly156= | |
| XM_005249949.3:c.648A>G | XP_005250006.1:p.Gly216= | |
| NM_001142459.2:c.513A>G MANE Select | NP_001135931.2:p.Gly171= | |
| NM_080871.4:c.468A>G | NP_543147.2:p.Gly156= |