Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010142A>T , CM000682.2:g.46010142A>T | GRCh38 |
| NC_000020.10:g.44638781A>T , CM000682.1:g.44638781A>T | GRCh37 |
| NC_000020.9:g.44072188A>T | NCBI36 |
| NG_011468.1:g.6235A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004994.3:c.371+44A>T MANE Select | NP_004985.2:n.371+44A>T |
| ENST00000372330.3:c.371+44A>T MANE Select | ENSP00000361405.3:n.371+44A>T |
| NM_004994.2:c.371+44A>T | NP_004985.2:n.371+44A>T |