Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63038992C>T , CM000670.2:g.63038992C>T | GRCh38 |
| NC_000008.10:g.63951551C>T , CM000670.1:g.63951551C>T | GRCh37 |
| NC_000008.9:g.64114105C>T | NCBI36 |
| NG_028126.1:g.5060G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000677327.1:n.416G>A | ||
| ENST00000679326.1:c.-224G>A | ENSP00000504262.1:n.-224G>A | |
| ENST00000260118.6:c.-224G>A | ENSP00000260118.6:n.-224G>A | |
| NM_003878.2:c.-224G>A | NP_003869.1:n.-224G>A | |
| XM_011517623.1:c.-224G>A | XP_011515925.1:n.-224G>A |