Linked Data
dbSNP Id:
rs2114693498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.155427839G>C , CM000668.2:g.155427839G>C | GRCh38 |
| NC_000006.11:g.155748973G>C , CM000668.1:g.155748973G>C | GRCh37 |
| NC_000006.10:g.155790665G>C | NCBI36 |
| NG_011995.1:g.33065C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000159060.3:c.1145+955C>G MANE Select | ENSP00000159060.2:n.1145+955C>G | |
| ENST00000159060.2:c.1145+955C>G | ENSP00000159060.2:n.1145+955C>G | |
| NM_015718.2:c.1145+955C>G | NP_056533.1:n.1145+955C>G | |
| NM_015718.3:c.1145+955C>G MANE Select | NP_056533.1:n.1145+955C>G |