Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3072433G>C , CM000682.2:g.3072433G>C | GRCh38 |
| NC_000020.10:g.3053079G>C , CM000682.1:g.3053079G>C | GRCh37 |
| NC_000020.9:g.3001079G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000915.4:c.*15G>C MANE Select | NP_000906.1:n.*15G>C |
| ENST00000217386.2:c.*15G>C MANE Select | ENSP00000217386.2:n.*15G>C |
| NM_000915.3:c.*15G>C | NP_000906.1:n.*15G>C |
| XM_011529238.1:c.*15G>C | XP_011527540.1:n.*15G>C |