Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63146941T>C , CM000674.2:g.63146941T>C | GRCh38 |
| NC_000012.11:g.63540721T>C , CM000674.1:g.63540721T>C | GRCh37 |
| NC_000012.10:g.61826988T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299178.4:c.*418A>G MANE Select | ENSP00000299178.3:n.*418A>G | |
| ENST00000299178.3:c.*418A>G | ENSP00000299178.2:n.*418A>G | |
| ENST00000550940.1:c.538+480A>G | ENSP00000449822.1:n.538+480A>G | |
| NM_000706.4:c.*418A>G | NP_000697.1:n.*418A>G | |
| XM_005269002.3:c.*418A>G | XP_005269059.1:n.*418A>G | |
| NM_000706.5:c.*418A>G MANE Select | NP_000697.1:n.*418A>G |