Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71851286G>A , CM000672.2:g.71851286G>A | GRCh38 |
| NC_000010.10:g.73611043G>A , CM000672.1:g.73611043G>A | GRCh37 |
| NC_000010.9:g.73281049G>A | NCBI36 |
| NG_009301.1:g.5040C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001042465.1:c.-65C>T | NP_001035930.1:n.-65C>T |
| NM_001042465.2:c.-65C>T | NP_001035930.1:n.-65C>T |
| NM_001042466.1:c.-65C>T | NP_001035931.1:n.-65C>T |
| NM_001042466.2:c.-65C>T | NP_001035931.1:n.-65C>T |
| NM_002778.2:c.-65C>T | NP_002769.1:n.-65C>T |
| NM_002778.3:c.-65C>T | NP_002769.1:n.-65C>T |
| ENST00000394934.4:c.-65C>T | ENSP00000378392.2:n.-65C>T |
| ENST00000394936.7:c.-65C>T | ENSP00000378394.3:n.-65C>T |
| ENST00000610929.3:c.-65C>T | ENSP00000480857.1:n.-65C>T |