Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17320897T>G , CM000669.2:g.17320897T>G | GRCh38 |
| NC_000007.13:g.17360521T>G , CM000669.1:g.17360521T>G | GRCh37 |
| NC_000007.12:g.17327046T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.254-1604T>G MANE Select | ENSP00000242057.4:n.254-1604T>G | |
| ENST00000637807.1:c.224-1604T>G | ENSP00000490530.1:n.224-1604T>G | |
| ENST00000642825.1:c.209-1604T>G | ENSP00000495987.1:n.209-1604T>G | |
| ENST00000242057.8:c.254-1604T>G | ENSP00000242057.4:n.254-1604T>G | |
| ENST00000463496.1:c.254-1604T>G | ENSP00000436466.1:n.254-1604T>G | |
| NM_001621.4:c.254-1604T>G | NP_001612.1:n.254-1604T>G | |
| NM_001621.5:c.254-1604T>G MANE Select | NP_001612.1:n.254-1604T>G |