Linked Data
dbSNP Id:
rs13258681
gnomAD v2:
8-124714722-T-C
gnomAD v3:
8-123702482-T-C
gnomAD v4:
8-123702482-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.123702482T>C , CM000670.2:g.123702482T>C | GRCh38 |
| NC_000008.10:g.124714722T>C , CM000670.1:g.124714722T>C | GRCh37 |
| NC_000008.9:g.124783903T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000419625.6:c.186+160A>G MANE Select | ENSP00000390809.1:n.186+160A>G | |
| ENST00000262219.10:c.309+160A>G | ENSP00000262219.6:n.309+160A>G | |
| ENST00000419625.5:c.186+160A>G | ENSP00000390809.1:n.186+160A>G | |
| ENST00000520519.1:c.99+160A>G | ENSP00000429358.1:n.99+160A>G | |
| NM_001003954.1:c.309+160A>G | NP_001003954.1:n.309+160A>G | |
| NM_004306.2:c.186+160A>G | NP_004297.2:n.186+160A>G | |
| NM_001003954.2:c.309+160A>G | NP_001003954.1:n.309+160A>G | |
| NM_004306.3:c.186+160A>G | NP_004297.2:n.186+160A>G | |
| NM_004306.4:c.186+160A>G MANE Select | NP_004297.2:n.186+160A>G | |
| NM_001003954.3:c.309+160A>G | NP_001003954.1:n.309+160A>G |