Linked Data
dbSNP Id:
rs1748154552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962827C>G , CM000666.2:g.42962827C>G | GRCh38 |
| NC_000004.11:g.42964844C>G , CM000666.1:g.42964844C>G | GRCh37 |
| NC_000004.10:g.42659601C>G | NCBI36 |
| NG_027718.1:g.74562C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.385-65C>G MANE Select | ENSP00000382670.2:n.385-65C>G | |
| ENST00000399770.2:c.385-65C>G | ENSP00000382670.2:n.385-65C>G | |
| NM_001080476.2:c.385-65C>G | NP_001073945.1:n.385-65C>G | |
| XM_011513691.1:c.22-65C>G | XP_011511993.1:n.22-65C>G | |
| NM_001080476.3:c.385-65C>G MANE Select | NP_001073945.1:n.385-65C>G |