Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116770G>C , CM000669.2:g.19116770G>C | GRCh38 |
| NC_000007.13:g.19156393G>C , CM000669.1:g.19156393G>C | GRCh37 |
| NC_000007.12:g.19122918G>C | NCBI36 |
| NG_008114.1:g.5903C>G | |
| NG_008114.2:g.5903C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.552C>G MANE Select | ENSP00000242261.5:p.Ser184Arg | |
| ENST00000242261.5:c.552C>G | ENSP00000242261.5:p.Ser184Arg | |
| ENST00000354571.5:c.349C>G | ||
| ENST00000443687.5:c.155C>G | ||
| NM_000474.3:c.552C>G | NP_000465.1:p.Ser184Arg | |
| XM_011515496.1:c.552C>G | XP_011513798.1:p.Ser184Arg | |
| NR_149001.1:n.903C>G | ||
| NM_000474.4:c.552C>G MANE Select | NP_000465.1:p.Ser184Arg | |
| NR_149001.2:n.867C>G |