Linked Data
dbSNP Id:
rs1795219132
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128247009G>A , CM000669.2:g.128247009G>A | GRCh38 |
| NC_000007.13:g.127887062G>A , CM000669.1:g.127887062G>A | GRCh37 |
| NC_000007.12:g.127674298G>A | NCBI36 |
| NG_007450.1:g.10732G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308868.5:c.-28-4982G>A MANE Select | ENSP00000312652.4:n.-28-4982G>A | |
| ENST00000308868.4:c.-28-4982G>A | ENSP00000312652.4:n.-28-4982G>A | |
| NM_000230.2:c.-28-4982G>A | NP_000221.1:n.-28-4982G>A | |
| XM_005250340.3:c.-28-4982G>A | XP_005250397.1:n.-28-4982G>A | |
| XM_005250340.5:c.-28-4982G>A | XP_005250397.1:n.-28-4982G>A | |
| NM_000230.3:c.-28-4982G>A MANE Select | NP_000221.1:n.-28-4982G>A |