Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15936769C>T , CM000666.2:g.15936769C>T | GRCh38 |
| NC_000004.11:g.15938392C>T , CM000666.1:g.15938392C>T | GRCh37 |
| NC_000004.10:g.15547490C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005130.5:c.-20-117G>A MANE Select | NP_005121.1:n.-20-117G>A |
| ENST00000382333.2:c.-20-117G>A MANE Select | ENSP00000371770.1:n.-20-117G>A |
| NM_005130.4:c.-20-117G>A | NP_005121.1:n.-20-117G>A |
| ENST00000382333.1:c.-20-117G>A | ENSP00000371770.1:n.-20-117G>A |