Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111077941T>C , CM000667.2:g.111077941T>C | GRCh38 |
| NC_000005.9:g.110413639T>C , CM000667.1:g.110413639T>C | GRCh37 |
| NC_000005.8:g.110441538T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344895.4:c.*1867T>C MANE Select | ENSP00000339804.3:n.*1867T>C | |
| ENST00000379706.4:c.*1867T>C | ENSP00000427827.1:n.*1867T>C | |
| NM_033035.4:c.*1867T>C | NP_149024.1:n.*1867T>C | |
| NM_138551.4:c.*1867T>C | NP_612561.2:n.*1867T>C | |
| NR_045089.1:n.3751T>C | ||
| NM_033035.5:c.*1867T>C MANE Select | NP_149024.1:n.*1867T>C | |
| NM_138551.5:c.*1867T>C | NP_612561.2:n.*1867T>C | |
| NR_045089.2:n.3769T>C |