Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78985494G>A , CM000667.2:g.78985494G>A | GRCh38 |
| NC_000005.9:g.78281317G>A , CM000667.1:g.78281317G>A | GRCh37 |
| NC_000005.8:g.78317073G>A | NCBI36 |
| NG_007089.1:g.6041C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000046.3:c.-246C>T | NP_000037.2:n.-246C>T |
| NM_000046.4:c.-246C>T | NP_000037.2:n.-246C>T |
| NM_198709.2:c.-246C>T | NP_942002.1:n.-246C>T |
| NM_198709.3:c.-246C>T | NP_942002.1:n.-246C>T |
| ENST00000264914.8:c.-246C>T | ENSP00000264914.4:n.-246C>T |
| ENST00000396151.7:c.-246C>T | ENSP00000379455.3:n.-246C>T |
| ENST00000521117.1:c.-246C>T | ENSP00000428611.1:n.-246C>T |
| ENST00000565165.1:c.-246C>T | ENSP00000456339.1:n.-246C>T |
| XM_011543390.1:c.-246C>T | XP_011541692.1:n.-246C>T |