Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50523522G>T , CM000684.2:g.50523522G>T | GRCh38 |
| NC_000022.10:g.50961951G>T , CM000684.1:g.50961951G>T | GRCh37 |
| NC_000022.9:g.49308817G>T | NCBI36 |
| NG_016235.1:g.7918C>A | |
| NG_021419.1:g.20307G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420993.7:c.*147G>T MANE Select | ENSP00000410088.2:n.*147G>T | |
| NM_001185011.1:c.*147G>T | NP_001171940.1:n.*147G>T | |
| NM_152299.3:c.*147G>T | NP_689512.2:n.*147G>T | |
| XR_001755232.1:n.2175G>T | ||
| NM_152299.4:c.*147G>T MANE Select | NP_689512.2:n.*147G>T | |
| NM_001185011.2:c.*147G>T | NP_001171940.1:n.*147G>T |