Linked Data
dbSNP Id:
rs1172053040
gnomAD v2:
16-2328416-C-T
gnomAD v3:
16-2278415-C-T
gnomAD v4:
16-2278415-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278415C>T , CM000678.2:g.2278415C>T | GRCh38 |
| NC_000016.9:g.2328416C>T , CM000678.1:g.2328416C>T | GRCh37 |
| NC_000016.8:g.2268417C>T | NCBI36 |
| NG_011790.1:g.67332G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4591G>A MANE Select | ENSP00000301732.5:p.Gly1531Arg | |
| ENST00000301732.9:c.4591G>A | ENSP00000301732.5:p.Gly1531Arg | |
| ENST00000382381.7:c.4417G>A | ENSP00000371818.3:p.Gly1473Arg | |
| ENST00000566200.1:n.1112G>A | ||
| NM_001089.2:c.4591G>A | NP_001080.2:p.Gly1531Arg | |
| NM_001089.3:c.4591G>A MANE Select | NP_001080.2:p.Gly1531Arg |