Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55180227A>C , CM000668.2:g.55180227A>C | GRCh38 |
| NC_000006.11:g.55045025A>C , CM000668.1:g.55045025A>C | GRCh37 |
| NC_000006.10:g.55152984A>C | NCBI36 |
| NG_012447.1:g.10955A>C | |
| NG_012447.2:g.78768A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001384272.1:c.223+5417A>C MANE Select | NP_001371201.1:n.223+5417A>C |
| ENST00000370862.4:c.223+5417A>C MANE Select | ENSP00000359899.3:n.223+5417A>C |
| NM_001526.3:c.223+5417A>C | NP_001517.2:n.223+5417A>C |
| NM_001526.4:c.223+5417A>C | NP_001517.2:n.223+5417A>C |
| NM_001526.5:c.223+5417A>C | NP_001517.2:n.223+5417A>C |
| ENST00000370862.3:c.223+5417A>C | ENSP00000359899.3:n.223+5417A>C |
| ENST00000615358.4:c.223+5417A>C | ENSP00000477548.1:n.223+5417A>C |
| XM_017010798.1:c.223+5417A>C | XP_016866287.1:n.223+5417A>C |