Linked Data
dbSNP Id:
rs1415338211
gnomAD v2:
15-43891734-G-A
gnomAD v3:
15-43599536-G-A
gnomAD v4:
15-43599536-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43599536G>A , CM000677.2:g.43599536G>A | GRCh38 |
| NC_000015.9:g.43891734G>A , CM000677.1:g.43891734G>A | GRCh37 |
| NC_000015.8:g.41679026G>A | NCBI36 |
| NG_011636.1:g.24265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411560.1:n.142+3G>A (CKMT1B) | ||
| ENST00000450892.6:c.*136C>T (STRC) | ENSP00000401513.2:n.*136C>T | |
| XM_011521277.1:c.*136C>T (STRC) | XP_011519579.1:n.*136C>T | |
| XM_011521278.1:c.*136C>T (STRC) | XP_011519580.1:n.*136C>T | |
| XM_011521279.1:c.*136C>T (STRC) | XP_011519581.1:n.*136C>T |