Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30594690T>C , CM000669.2:g.30594690T>C | GRCh38 |
| NC_000007.13:g.30634306T>C , CM000669.1:g.30634306T>C | GRCh37 |
| NC_000007.12:g.30600831T>C | NCBI36 |
| NG_007942.1:g.5126T>C , LRG_243:g.5126T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675051.1:c.22-4106T>C | ENSP00000502296.1:n.22-4106T>C | |
| ENST00000389266.7:c.-232T>C | ENSP00000373918.3:n.-232T>C | |
| NM_002047.2:c.-232T>C , LRG_243t1:c.-232T>C | NP_002038.2:n.-232T>C |