Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172447373A>G , CM000665.2:g.172447373A>G | GRCh38 |
| NC_000003.11:g.172165163A>G , CM000665.1:g.172165163A>G | GRCh37 |
| NC_000003.10:g.173647857A>G | NCBI36 |
| NG_021159.1:g.6084T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198407.2:c.796+245T>C MANE Select | NP_940799.1:n.796+245T>C |
| ENST00000241256.3:c.796+245T>C MANE Select | ENSP00000241256.2:n.796+245T>C |
| ENST00000241256.2:c.796+245T>C | ENSP00000241256.2:n.796+245T>C |