Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32404743A>G , CM000669.2:g.32404743A>G | GRCh38 |
| NC_000007.13:g.32444355A>G , CM000669.1:g.32444355A>G | GRCh37 |
| NC_000007.12:g.32410880A>G | NCBI36 |
| NG_051183.1:g.28482T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672256.1:c.310+23079T>C | ENSP00000499831.1:n.310+23079T>C | |
| NM_001322059.1:c.310+23079T>C | NP_001308988.1:n.310+23079T>C | |
| NM_001322059.2:c.310+23079T>C | NP_001308988.1:n.310+23079T>C |