Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37490496C= , CM000679.2:g.37490496C= | GRCh38 |
| NC_000017.10:g.35850602C= , CM000679.1:g.35850602C= | GRCh37 |
| NC_000017.9:g.32924715C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617516.5:c.-181+538C= MANE Select | ENSP00000478595.1:n.-181+538C= | |
| ENST00000617516.4:c.-181+538C= | ENSP00000478595.1:n.-181+538C= | |
| NM_007026.3:c.-181+538C= | NP_008957.1:n.-181+538C= | |
| XM_011524234.1:c.-181+1541C= | XP_011522536.1:n.-181+1541C= | |
| XM_005256977.3:c.-1312C= | XP_005257034.1:n.-1312C= | |
| NM_007026.4:c.-181+538C= MANE Select | NP_008957.1:n.-181+538C= |