| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38351716A>C , CM000685.2:g.38351716A>C | GRCh38 |
| NC_000023.10:g.38210969A>C , CM000685.1:g.38210969A>C | GRCh37 |
| NC_000023.9:g.38095913A>C | NCBI36 |
| NG_008471.1:g.4234A>C |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000465127.1:c.172-314405A>C | ENSP00000417050.1:n.172-314405A>C |