Linked Data
dbSNP Id:
rs1868364842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63146834C>G , CM000674.2:g.63146834C>G | GRCh38 |
| NC_000012.11:g.63540614C>G , CM000674.1:g.63540614C>G | GRCh37 |
| NC_000012.10:g.61826881C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299178.4:c.*525G>C MANE Select | ENSP00000299178.3:n.*525G>C | |
| ENST00000299178.3:c.*525G>C | ENSP00000299178.2:n.*525G>C | |
| ENST00000550940.1:c.538+587G>C | ENSP00000449822.1:n.538+587G>C | |
| NM_000706.4:c.*525G>C | NP_000697.1:n.*525G>C | |
| XM_005269002.3:c.*525G>C | XP_005269059.1:n.*525G>C | |
| NM_000706.5:c.*525G>C MANE Select | NP_000697.1:n.*525G>C |