Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.132127849A>G , CM000685.2:g.132127849A>G | GRCh38 |
| NC_000023.10:g.131261877A>G , CM000685.1:g.131261877A>G | GRCh37 |
| NC_000023.9:g.131089558A>G | NCBI36 |
| NG_012347.1:g.5174T>C , LRG_867:g.5174T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298542.9:c.-5T>C MANE Select | ENSP00000298542.3:n.-5T>C | |
| ENST00000298542.8:c.-5T>C | ENSP00000298542.3:n.-5T>C | |
| NM_001306193.1:c.-5T>C | NP_001293122.1:n.-5T>C | |
| NM_194277.2:c.-5T>C , LRG_867t1:c.-5T>C | NP_919253.1:n.-5T>C | |
| XM_017029948.2:c.-33T>C | XP_016885437.1:n.-33T>C | |
| NM_001306193.2:c.-5T>C | NP_001293122.1:n.-5T>C | |
| NM_194277.3:c.-5T>C MANE Select | NP_919253.1:n.-5T>C |