Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148987410A>T , CM000667.2:g.148987410A>T | GRCh38 |
| NC_000005.9:g.148366973A>T , CM000667.1:g.148366973A>T | GRCh37 |
| NC_000005.8:g.148347166A>T | NCBI36 |
| NG_007947.2:g.80765T>A , LRG_269:g.80765T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024577.4:c.*17301T>A MANE Select | NP_078853.2:n.*17301T>A |
| ENST00000515425.6:c.*17301T>A MANE Select | ENSP00000423660.1:n.*17301T>A |
| NM_024577.3:c.*17301T>A , LRG_269t1:c.*17301T>A | NP_078853.2:n.*17301T>A |
| ENST00000504690.5:c.*12+16316T>A | ENSP00000425627.1:n.*12+16316T>A |
| ENST00000510350.1:n.231+19471T>A |