Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113074638T>C , CM000664.2:g.113074638T>C | GRCh38 |
| NC_000002.11:g.113832215T>C , CM000664.1:g.113832215T>C | GRCh37 |
| NC_000002.10:g.113548686T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393197.3:c.119-85T>C | ENSP00000376893.2:n.119-85T>C | |
| ENST00000341010.6:c.119-85T>C MANE Select | ENSP00000341794.2:n.119-85T>C | |
| ENST00000393197.2:c.119-85T>C | ENSP00000376893.2:n.119-85T>C | |
| ENST00000496265.1:n.100T>C | ||
| NM_032556.5:c.119-85T>C | NP_115945.4:n.119-85T>C | |
| NM_173161.2:c.119-85T>C | NP_775184.1:n.119-85T>C | |
| NM_032556.6:c.119-85T>C | NP_115945.4:n.119-85T>C | |
| NM_173161.3:c.119-85T>C MANE Select | NP_775184.1:n.119-85T>C |