Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10079901C>T , CM000664.2:g.10079901C>T | GRCh38 |
| NC_000002.11:g.10220028C>T , CM000664.1:g.10220028C>T | GRCh37 |
| NC_000002.10:g.10137479C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001037160.3:c.318+5G>A MANE Select | NP_001032237.1:n.318+5G>A |
| ENST00000381813.5:c.318+5G>A MANE Select | ENSP00000371234.4:n.318+5G>A |
| NM_001037160.2:c.318+5G>A | NP_001032237.1:n.318+5G>A |
| ENST00000381813.4:c.318+5G>A | ENSP00000371234.4:n.318+5G>A |
| ENST00000477304.1:n.109+935G>A |