Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151666362C>G , CM000667.2:g.151666362C>G | GRCh38 |
| NC_000005.9:g.151045923C>G , CM000667.1:g.151045923C>G | GRCh37 |
| NC_000005.8:g.151026116C>G | NCBI36 |
| NG_042174.1:g.25693G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003118.4:c.733G>C MANE Select | NP_003109.1:p.Gly245Arg |
| ENST00000231061.9:c.733G>C MANE Select | ENSP00000231061.4:p.Gly245Arg |
| NM_001309443.1:c.730G>C | NP_001296372.1:p.Gly244Arg |
| NM_001309443.2:c.730G>C | NP_001296372.1:p.Gly244Arg |
| NM_001309444.1:c.733G>C | NP_001296373.1:p.Gly245Arg |
| NM_001309444.2:c.733G>C | NP_001296373.1:p.Gly245Arg |
| NM_003118.3:c.733G>C | NP_003109.1:p.Gly245Arg |
| ENST00000231061.8:c.733G>C | ENSP00000231061.4:p.Gly245Arg |
| ENST00000520687.1:n.336G>C |