Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.202935T>C , CM000673.2:g.202935T>C | GRCh38 |
| NC_000011.9:g.202935T>C , CM000673.1:g.202935T>C | GRCh37 |
| NC_000011.8:g.192935T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382762.8:c.*2367A>G MANE Select | ENSP00000372210.3:n.*2367A>G | |
| ENST00000325147.13:c.*2535A>G | ENSP00000339093.7:n.*2535A>G | |
| ENST00000382762.7:c.*2367A>G | ENSP00000372210.3:n.*2367A>G | |
| ENST00000410108.5:c.168+2676A>G | ENSP00000386558.1:n.168+2676A>G | |
| NM_001098787.1:c.*2367A>G | NP_001092257.1:n.*2367A>G | |
| NM_016526.4:c.*2535A>G | NP_057610.2:n.*2535A>G | |
| NM_001098787.2:c.*2367A>G MANE Select | NP_001092257.1:n.*2367A>G | |
| NM_016526.5:c.*2535A>G | NP_057610.2:n.*2535A>G |