Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352924G= , CM000666.2:g.99352924G= | GRCh38 |
| NC_000004.11:g.100274081G= , CM000666.1:g.100274081G= | GRCh37 |
| NC_000004.10:g.100493104G= | NCBI36 |
| NG_011718.1:g.4837C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-249C= | ENSP00000426083.1:n.-249C= | |
| NM_000669.4:c.-249C= | NP_000660.1:n.-249C= | |
| NR_133005.1:n.122C= | ||
| XM_011531588.1:c.-249C= | XP_011529890.1:n.-249C= | |
| XM_011531589.1:c.-489C= | XP_011529891.1:n.-489C= |