Linked Data
dbSNP Id:
rs2212596
gnomAD v2:
21-39968534-A-C
gnomAD v3:
21-38596610-A-C
gnomAD v4:
21-38596610-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.38596610A>C , CM000683.2:g.38596610A>C | GRCh38 |
| NC_000021.8:g.39968534A>C , CM000683.1:g.39968534A>C | GRCh37 |
| NC_000021.7:g.38890404A>C | NCBI36 |
| NG_029732.1:g.70171T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398910.5:c.-149-11665T>G | ENSP00000381881.1:n.-149-11665T>G | |
| ENST00000398919.6:c.-149-11665T>G | ENSP00000381891.2:n.-149-11665T>G | |
| ENST00000417133.6:c.-149-11665T>G | ENSP00000414150.2:n.-149-11665T>G | |
| ENST00000429727.6:c.-266-11665T>G | ENSP00000415659.3:n.-266-11665T>G | |
| ENST00000442448.5:c.-149-11665T>G | ENSP00000394694.1:n.-149-11665T>G | |
| ENST00000468474.5:n.38-11665T>G | ||
| ENST00000485493.1:n.38-11665T>G | ||
| NM_001136154.1:c.-149-11665T>G | NP_001129626.1:n.-149-11665T>G | |
| NM_001243428.1:c.-149-11665T>G | NP_001230357.1:n.-149-11665T>G | |
| NM_001243432.2:c.-149-11665T>G | NP_001230361.1:n.-149-11665T>G | |
| NM_001291391.1:c.-149-11665T>G | NP_001278320.1:n.-149-11665T>G | |
| NM_004449.4:c.-149-11665T>G | NP_004440.1:n.-149-11665T>G | |
| NR_111949.1:n.124-11665T>G | ||
| XM_011529486.1:c.-149-11665T>G | XP_011527788.1:n.-149-11665T>G | |
| XM_011529487.1:c.-149-11665T>G | XP_011527789.1:n.-149-11665T>G | |
| NR_111949.2:n.127-11665T>G |