Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232540145C>T , CM000664.2:g.232540145C>T | GRCh38 |
| NC_000002.11:g.233404855C>T , CM000664.1:g.233404855C>T | GRCh37 |
| NC_000002.10:g.233113099C>T | NCBI36 |
| NG_012954.1:g.5419C>T | |
| NG_012954.2:g.5454C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005199.5:c.195+14C>T MANE Select | NP_005190.4:n.195+14C>T |
| ENST00000651502.1:c.195+14C>T MANE Select | ENSP00000498757.1:n.195+14C>T |
| NM_005199.4:c.195+14C>T | NP_005190.4:n.195+14C>T |
| ENST00000389492.3:c.195+14C>T | ENSP00000374143.3:n.195+14C>T |
| ENST00000389494.7:c.195+14C>T | ENSP00000374145.3:n.195+14C>T |
| ENST00000485094.1:n.216+14C>T |