Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155022257T= , CM000685.2:g.155022257T= | GRCh38 |
| NC_000023.10:g.154250532T= , CM000685.1:g.154250532T= | GRCh37 |
| NC_000023.9:g.153903726T= | NCBI36 |
| NG_011403.1:g.5467A= | |
| NG_011403.2:g.5467A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.143+153A= MANE Select | ENSP00000353393.4:n.143+153A= | |
| ENST00000647125.1:c.121+175A= | ENSP00000496062.1:n.121+175A= | |
| ENST00000360256.8:c.143+153A= | ENSP00000353393.4:n.143+153A= | |
| ENST00000423959.5:c.38+4523A= | ENSP00000409446.1:n.38+4523A= | |
| ENST00000453950.1:c.125+153A= | ENSP00000389153.1:n.125+153A= | |
| NM_000132.3:c.143+153A= | NP_000123.1:n.143+153A= | |
| XM_011531126.1:c.38+4523A= | XP_011529428.1:n.38+4523A= | |
| NM_000132.4:c.143+153A= MANE Select | NP_000123.1:n.143+153A= |