Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30594762T>C , CM000669.2:g.30594762T>C | GRCh38 |
| NC_000007.13:g.30634378T>C , CM000669.1:g.30634378T>C | GRCh37 |
| NC_000007.12:g.30600903T>C | NCBI36 |
| NG_007942.1:g.5198T>C , LRG_243:g.5198T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675051.1:c.22-4034T>C | ENSP00000502296.1:n.22-4034T>C | |
| ENST00000389266.7:c.-160T>C | ENSP00000373918.3:n.-160T>C | |
| NM_001316772.1:c.-322T>C | NP_001303701.1:n.-322T>C | |
| NM_002047.2:c.-160T>C , LRG_243t1:c.-160T>C | NP_002038.2:n.-160T>C |