Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102837464C>T , CM000672.2:g.102837464C>T | GRCh38 |
| NC_000010.10:g.104597221C>T , CM000672.1:g.104597221C>T | GRCh37 |
| NC_000010.9:g.104587211C>T | NCBI36 |
| NG_007955.1:g.5070G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638190.1:c.-103G>A | ENSP00000492539.1:n.-103G>A | |
| ENST00000638971.1:c.-103G>A | ENSP00000492313.1:n.-103G>A | |
| ENST00000369887.3:c.-103G>A | ENSP00000358903.3:n.-103G>A | |
| NM_000102.3:c.-103G>A | NP_000093.1:n.-103G>A |