Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177600175G>A , CM000667.2:g.177600175G>A | GRCh38 |
| NC_000005.9:g.177027176G>A , CM000667.1:g.177027176G>A | GRCh37 |
| NC_000005.8:g.176959782G>A | NCBI36 |
| NG_015977.1:g.5058G>A | |
| NG_051237.1:g.13028G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007255.3:c.-36G>A MANE Select | NP_009186.1:n.-36G>A |
| ENST00000029410.10:c.-36G>A MANE Select | ENSP00000029410.5:n.-36G>A |
| NM_007255.2:c.-36G>A | NP_009186.1:n.-36G>A |
| ENST00000029410.9:c.-36G>A | ENSP00000029410.5:n.-36G>A |
| ENST00000502420.1:n.44G>A | |
| ENST00000505433.5:c.-36G>A | ENSP00000425591.1:n.-36G>A |
| XM_006714816.4:c.-535G>A | XP_006714879.1:n.-535G>A |