Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498143A>C , CM000680.2:g.31498143A>C | GRCh38 |
| NC_000018.9:g.29078106A>C , CM000680.1:g.29078106A>C | GRCh37 |
| NC_000018.8:g.27332104A>C | NCBI36 |
| NG_007072.3:g.4902A>C , LRG_397:g.4902A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.12:c.-109A>C | ENSP00000261590.8:n.-109A>C | |
| NM_001943.3:c.-109A>C , LRG_397t1:c.-109A>C | NP_001934.2:n.-109A>C | |
| NM_001943.4:c.-109A>C | NP_001934.2:n.-109A>C |