Linked Data
dbSNP Id:
rs1830544296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134375475T>G , CM000671.2:g.134375475T>G | GRCh38 |
| NC_000009.11:g.137267321T>G , CM000671.1:g.137267321T>G | GRCh37 |
| NC_000009.10:g.136407142T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.29-26157T>G MANE Select | ENSP00000419692.1:n.29-26157T>G | |
| ENST00000356384.4:n.293+1345T>G | ||
| ENST00000481739.1:c.29-26157T>G | ENSP00000419692.1:n.29-26157T>G | |
| ENST00000484822.1:n.453-26157T>G | ||
| NM_002957.5:c.29-26157T>G | NP_002948.1:n.29-26157T>G | |
| NM_002957.6:c.29-26157T>G MANE Select | NP_002948.1:n.29-26157T>G |