Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155022620C= , CM000685.2:g.155022620C= | GRCh38 |
| NC_000023.10:g.154250895C= , CM000685.1:g.154250895C= | GRCh37 |
| NC_000023.9:g.153904089C= | NCBI36 |
| NG_011403.1:g.5104G= | |
| NG_011403.2:g.5104G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.-68G= MANE Select | ENSP00000353393.4:n.-68G= | |
| ENST00000647125.1:c.-68G= | ENSP00000496062.1:n.-68G= | |
| ENST00000360256.8:c.-68G= | ENSP00000353393.4:n.-68G= | |
| ENST00000423959.5:c.38+4160G= | ENSP00000409446.1:n.38+4160G= | |
| ENST00000453950.1:c.39-124G= | ENSP00000389153.1:n.39-124G= | |
| NM_000132.3:c.-68G= | NP_000123.1:n.-68G= | |
| XM_011531126.1:c.38+4160G= | XP_011529428.1:n.38+4160G= | |
| NM_000132.4:c.-68G= MANE Select | NP_000123.1:n.-68G= |