Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107883166A>G , CM000668.2:g.107883166A>G | GRCh38 |
| NC_000006.11:g.108204370A>G , CM000668.1:g.108204370A>G | GRCh37 |
| NC_000006.10:g.108311063A>G | NCBI36 |
| NG_008270.1:g.80113T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.1675-20T>C MANE Select | ENSP00000357998.4:n.1675-20T>C | |
| ENST00000369002.8:c.1675-20T>C | ENSP00000357998.4:n.1675-20T>C | |
| ENST00000473746.1:n.302T>C | ||
| NM_007214.4:c.1675-20T>C | NP_009145.1:n.1675-20T>C | |
| XM_011535399.1:c.1507-20T>C | XP_011533701.1:n.1507-20T>C | |
| XM_017010218.2:c.577-20T>C | XP_016865707.1:n.577-20T>C | |
| NM_007214.5:c.1675-20T>C MANE Select | NP_009145.1:n.1675-20T>C |