Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922706G>C , CM000676.2:g.102922706G>C | GRCh38 |
| NC_000014.8:g.103389043G>C , CM000676.1:g.103389043G>C | GRCh37 |
| NC_000014.7:g.102458796G>C | NCBI36 |
| NG_008276.2:g.5051G>C , LRG_642:g.5051G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.18G>C MANE Select | ENSP00000299155.6:p.Arg6= | |
| ENST00000299155.9:c.18G>C | ENSP00000299155.5:p.Arg6= | |
| NM_030943.3:c.18G>C , LRG_642t1:c.18G>C | NP_112205.2:p.Arg6= | |
| XM_011537202.1:c.-164G>C | XP_011535504.1:n.-164G>C | |
| XM_011537202.3:c.-164G>C | XP_011535504.1:n.-164G>C | |
| XM_024449714.1:c.114G>C | XP_024305482.1:p.Arg38= | |
| NM_030943.4:c.18G>C MANE Select | NP_112205.2:p.Arg6= |