Linked Data
dbSNP Id:
rs1236149262
gnomAD v2:
6-108882724-G-C
gnomAD v3:
6-108561521-G-C
gnomAD v4:
6-108561521-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108561521G>C , CM000668.2:g.108561521G>C | GRCh38 |
| NC_000006.11:g.108882724G>C , CM000668.1:g.108882724G>C | GRCh37 |
| NC_000006.10:g.108989417G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406360.2:c.313G>C MANE Select | ENSP00000385824.1:p.Gly105Arg | |
| ENST00000343882.10:c.313G>C | ENSP00000339527.6:p.Gly105Arg | |
| ENST00000406360.1:c.313G>C | ENSP00000385824.1:p.Gly105Arg | |
| NM_001455.3:c.313G>C | NP_001446.1:p.Gly105Arg | |
| NM_201559.2:c.313G>C | NP_963853.1:p.Gly105Arg | |
| NM_001455.4:c.313G>C MANE Select | NP_001446.1:p.Gly105Arg | |
| NM_201559.3:c.313G>C | NP_963853.1:p.Gly105Arg |