Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61378306A>G , CM000664.2:g.61378306A>G | GRCh38 |
| NC_000002.11:g.61605441A>G , CM000664.1:g.61605441A>G | GRCh37 |
| NC_000002.10:g.61458945A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398571.7:c.1076+57T>C MANE Select | ENSP00000381577.2:n.1076+57T>C | |
| ENST00000398571.6:c.1076+57T>C | ENSP00000381577.2:n.1076+57T>C | |
| ENST00000453133.1:c.602+57T>C | ||
| NM_014709.3:c.1076+57T>C | NP_055524.3:n.1076+57T>C | |
| NM_014709.4:c.1076+57T>C MANE Select | NP_055524.3:n.1076+57T>C |