Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837577A= , CM000685.2:g.154837577A= | GRCh38 |
| NC_000023.10:g.154065852A= , CM000685.1:g.154065852A= | GRCh37 |
| NC_000023.9:g.153719046A= | NCBI36 |
| NG_011403.1:g.190147T= | |
| NG_033065.1:g.2086T= | |
| NG_011403.2:g.190147T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.*20T= MANE Select | NP_000123.1:n.*20T= |
| ENST00000360256.9:c.*20T= MANE Select | ENSP00000353393.4:n.*20T= |
| NM_000132.3:c.*20T= | NP_000123.1:n.*20T= |
| NM_019863.2:c.*20T= | NP_063916.1:n.*20T= |
| NM_019863.3:c.*20T= | NP_063916.1:n.*20T= |
| ENST00000330287.10:c.*20T= | ENSP00000327895.6:n.*20T= |
| ENST00000360256.8:c.*20T= | ENSP00000353393.4:n.*20T= |
| ENST00000644698.1:c.*20T= | ENSP00000495706.1:n.*20T= |
| XM_011531126.1:c.*20T= | XP_011529428.1:n.*20T= |