Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648729T>C , CM000669.2:g.152648729T>C | GRCh38 |
| NC_000007.13:g.152345814T>C , CM000669.1:g.152345814T>C | GRCh37 |
| NC_000007.12:g.151976747T>C | NCBI36 |
| NG_027988.1:g.32437A>G | |
| NG_027988.2:g.32437A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005431.2:c.756A>G MANE Select | NP_005422.1:p.Gln252= |
| ENST00000359321.2:c.756A>G MANE Select | ENSP00000352271.1:p.Gln252= |
| NM_005431.1:c.756A>G | NP_005422.1:p.Gln252= |
| ENST00000359321.1:c.756A>G | ENSP00000352271.1:p.Gln252= |
| ENST00000495707.1:n.778A>G | |
| ENST00000698506.1:c.588A>G | ENSP00000513758.1:p.Gln196= |