Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69119493T>G , CM000665.2:g.69119493T>G | GRCh38 |
| NC_000003.11:g.69168644T>G , CM000665.1:g.69168644T>G | GRCh37 |
| NC_000003.10:g.69251334T>G | NCBI36 |
| NG_041828.1:g.8103A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.862A>C MANE Select | ENSP00000414670.3:p.Ser288Arg | |
| ENST00000420581.6:c.862A>C | ENSP00000414670.2:p.Ser288Arg | |
| ENST00000475434.1:c.862A>C | ENSP00000418645.1:p.Ser288Arg | |
| ENST00000489031.5:c.862A>C | ENSP00000417210.1:p.Ser288Arg | |
| NM_001304418.1:c.862A>C | NP_001291347.1:p.Ser288Arg | |
| NM_198271.4:c.862A>C | NP_938012.2:p.Ser288Arg | |
| NM_001304418.3:c.862A>C | NP_001291347.1:p.Ser288Arg | |
| NM_198271.5:c.862A>C MANE Select | NP_938012.2:p.Ser288Arg |