Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61378285C>T , CM000664.2:g.61378285C>T | GRCh38 |
| NC_000002.11:g.61605420C>T , CM000664.1:g.61605420C>T | GRCh37 |
| NC_000002.10:g.61458924C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398571.7:c.1076+78G>A MANE Select | ENSP00000381577.2:n.1076+78G>A | |
| ENST00000398571.6:c.1076+78G>A | ENSP00000381577.2:n.1076+78G>A | |
| ENST00000453133.1:c.602+78G>A | ||
| NM_014709.3:c.1076+78G>A | NP_055524.3:n.1076+78G>A | |
| NM_014709.4:c.1076+78G>A MANE Select | NP_055524.3:n.1076+78G>A |