Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648755G>C , CM000669.2:g.152648755G>C | GRCh38 |
| NC_000007.13:g.152345840G>C , CM000669.1:g.152345840G>C | GRCh37 |
| NC_000007.12:g.151976773G>C | NCBI36 |
| NG_027988.1:g.32411C>G | |
| NG_027988.2:g.32411C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.562C>G | ENSP00000513758.1:p.Gln188Glu | |
| ENST00000359321.2:c.730C>G MANE Select | ENSP00000352271.1:p.Gln244Glu | |
| ENST00000359321.1:c.730C>G | ENSP00000352271.1:p.Gln244Glu | |
| ENST00000495707.1:n.752C>G | ||
| NM_005431.1:c.730C>G | NP_005422.1:p.Gln244Glu | |
| NM_005431.2:c.730C>G MANE Select | NP_005422.1:p.Gln244Glu |