Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14787486G>A , CM000674.2:g.14787486G>A | GRCh38 |
| NC_000012.11:g.14940420G>A , CM000674.1:g.14940420G>A | GRCh37 |
| NC_000012.10:g.14831687G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261167.7:c.1505C>T (WBP11) MANE Select | ENSP00000261167.2:p.Pro502Leu | |
| ENST00000261167.6:c.1505C>T (WBP11) | ENSP00000261167.2:p.Pro502Leu | |
| NM_016312.2:c.1505C>T (WBP11) | NP_057396.1:p.Pro502Leu | |
| XM_005253323.2:c.-517+1279G>A (C12orf60) | XP_005253380.1:n.-517+1279G>A | |
| XM_024448858.1:c.-517+1279G>A (C12orf60) | XP_024304626.1:n.-517+1279G>A | |
| XM_024448859.1:c.-517+1279G>A (C12orf60) | XP_024304627.1:n.-517+1279G>A | |
| NM_016312.3:c.1505C>T (WBP11) MANE Select | NP_057396.1:p.Pro502Leu |