Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61378234G>A , CM000664.2:g.61378234G>A | GRCh38 |
| NC_000002.11:g.61605369G>A , CM000664.1:g.61605369G>A | GRCh37 |
| NC_000002.10:g.61458873G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398571.7:c.1076+129C>T MANE Select | ENSP00000381577.2:n.1076+129C>T | |
| ENST00000398571.6:c.1076+129C>T | ENSP00000381577.2:n.1076+129C>T | |
| ENST00000453133.1:c.602+129C>T | ||
| NM_014709.3:c.1076+129C>T | NP_055524.3:n.1076+129C>T | |
| NM_014709.4:c.1076+129C>T MANE Select | NP_055524.3:n.1076+129C>T |