Linked Data
dbSNP Id:
rs1583717864
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39215926A>G , CM000668.2:g.39215926A>G | GRCh38 |
| NC_000006.11:g.39183702A>G , CM000668.1:g.39183702A>G | GRCh37 |
| NC_000006.10:g.39291680A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359534.4:c.186+13000T>C MANE Select | ENSP00000352527.3:n.186+13000T>C | |
| ENST00000359534.3:c.186+13000T>C | ENSP00000352527.3:n.186+13000T>C | |
| NM_003740.3:c.186+13000T>C | NP_003731.1:n.186+13000T>C | |
| XM_005249456.1:c.186+13000T>C | XP_005249513.1:n.186+13000T>C | |
| NM_003740.4:c.186+13000T>C MANE Select | NP_003731.1:n.186+13000T>C |