Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994490G>T , CM000667.2:g.148994490G>T | GRCh38 |
| NC_000005.9:g.148374053G>T , CM000667.1:g.148374053G>T | GRCh37 |
| NC_000005.8:g.148354246G>T | NCBI36 |
| NG_007947.2:g.73685C>A , LRG_269:g.73685C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*10221C>A MANE Select | ENSP00000423660.1:n.*10221C>A | |
| ENST00000504690.5:c.*12+9236C>A | ENSP00000425627.1:n.*12+9236C>A | |
| ENST00000510350.1:n.231+12391C>A | ||
| NM_024577.3:c.*10221C>A , LRG_269t1:c.*10221C>A | NP_078853.2:n.*10221C>A | |
| NM_024577.4:c.*10221C>A MANE Select | NP_078853.2:n.*10221C>A |