Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.72197358C>A , CM000667.2:g.72197358C>A | GRCh38 |
| NC_000005.9:g.71493185C>A , CM000667.1:g.71493185C>A | GRCh37 |
| NC_000005.8:g.71528941C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296755.12:c.4003C>A MANE Select | ENSP00000296755.7:p.Pro1335Thr | |
| ENST00000296755.11:c.4003C>A | ENSP00000296755.7:p.Pro1335Thr | |
| NM_005909.3:c.4003C>A | NP_005900.2:p.Pro1335Thr | |
| XM_005248507.2:c.3625C>A | XP_005248564.1:p.Pro1209Thr | |
| NM_001324255.1:c.3625C>A | NP_001311184.1:p.Pro1209Thr | |
| NM_005909.4:c.4003C>A | NP_005900.2:p.Pro1335Thr | |
| NM_005909.5:c.4003C>A MANE Select | NP_005900.2:p.Pro1335Thr | |
| NM_001324255.2:c.3625C>A | NP_001311184.1:p.Pro1209Thr |