Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.498959C>G , CM000666.2:g.498959C>G | GRCh38 |
| NC_000004.11:g.492748C>G , CM000666.1:g.492748C>G | GRCh37 |
| NC_000004.10:g.482748C>G | NCBI36 |
| NG_051621.1:g.4760C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133474.4:c.-94+97G>C MANE Select | NP_597731.2:n.-94+97G>C |
| ENST00000511833.3:c.-94+97G>C MANE Select | ENSP00000428878.1:n.-94+97G>C |
| NM_133474.3:c.-94+97G>C | NP_597731.2:n.-94+97G>C |
| ENST00000338977.5:c.-3+97G>C | ENSP00000340524.5:n.-3+97G>C |
| ENST00000511833.2:c.-94+97G>C | ENSP00000428878.1:n.-94+97G>C |