Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174764872T>G , CM000664.2:g.174764872T>G | GRCh38 |
| NC_000002.11:g.175629600T>G , CM000664.1:g.175629600T>G | GRCh37 |
| NC_000002.10:g.175337846T>G | NCBI36 |
| NG_008172.1:g.4601A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.-446-5239A>C | ENSP00000490338.2:n.-446-5239A>C |