Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113074641T>G , CM000664.2:g.113074641T>G | GRCh38 |
| NC_000002.11:g.113832218T>G , CM000664.1:g.113832218T>G | GRCh37 |
| NC_000002.10:g.113548689T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393197.3:c.119-82T>G | ENSP00000376893.2:n.119-82T>G | |
| ENST00000341010.6:c.119-82T>G MANE Select | ENSP00000341794.2:n.119-82T>G | |
| ENST00000393197.2:c.119-82T>G | ENSP00000376893.2:n.119-82T>G | |
| ENST00000496265.1:n.103T>G | ||
| NM_032556.5:c.119-82T>G | NP_115945.4:n.119-82T>G | |
| NM_173161.2:c.119-82T>G | NP_775184.1:n.119-82T>G | |
| NM_032556.6:c.119-82T>G | NP_115945.4:n.119-82T>G | |
| NM_173161.3:c.119-82T>G MANE Select | NP_775184.1:n.119-82T>G |