Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.132127944C>A , CM000685.2:g.132127944C>A | GRCh38 |
| NC_000023.10:g.131261972C>A , CM000685.1:g.131261972C>A | GRCh37 |
| NC_000023.9:g.131089653C>A | NCBI36 |
| NG_012347.1:g.5079G>T , LRG_867:g.5079G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_194277.3:c.-100G>T MANE Select | NP_919253.1:n.-100G>T |
| ENST00000298542.9:c.-100G>T MANE Select | ENSP00000298542.3:n.-100G>T |
| NM_001306193.1:c.-100G>T | NP_001293122.1:n.-100G>T |
| NM_001306193.2:c.-100G>T | NP_001293122.1:n.-100G>T |
| NM_194277.2:c.-100G>T , LRG_867t1:c.-100G>T | NP_919253.1:n.-100G>T |
| ENST00000298542.8:c.-100G>T | ENSP00000298542.3:n.-100G>T |