Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32404614G>T , CM000669.2:g.32404614G>T | GRCh38 |
| NC_000007.13:g.32444226G>T , CM000669.1:g.32444226G>T | GRCh37 |
| NC_000007.12:g.32410751G>T | NCBI36 |
| NG_051183.1:g.28611C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672256.1:c.310+23208C>A | ENSP00000499831.1:n.310+23208C>A | |
| NM_001322059.1:c.310+23208C>A | NP_001308988.1:n.310+23208C>A | |
| NM_001322059.2:c.310+23208C>A | NP_001308988.1:n.310+23208C>A |