Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004288T>C , CM000681.2:g.47004288T>C | GRCh38 |
| NC_000019.9:g.47507545T>C , CM000681.1:g.47507545T>C | GRCh37 |
| NC_000019.8:g.52199385T>C | NCBI36 |
| NG_047014.1:g.90722T>C | |
| NG_047014.2:g.148292T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.8100T>C | ENSP00000385720.2:n.8100T>C | |
| ENST00000672722.1:c.*3600T>C MANE Select | ENSP00000500409.1:n.*3600T>C | |
| ENST00000404338.7:c.8100T>C | ENSP00000385720.2:n.8100T>C | |
| ENST00000614079.1:c.7677T>C | ENSP00000483730.1:n.7677T>C | |
| NM_004491.4:c.8100T>C | NP_004482.4:n.8100T>C | |
| NM_004491.5:c.*3600T>C MANE Select | NP_004482.4:n.*3600T>C |