Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835397G= , CM000670.2:g.117835397G= | GRCh38 |
| NC_000008.10:g.118847636G= , CM000670.1:g.118847636G= | GRCh37 |
| NC_000008.9:g.118916817G= | NCBI36 |
| NG_007455.2:g.281423C= , LRG_493:g.281423C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.631+47C= | ||
| ENST00000378204.7:c.1164+47C= MANE Select | ENSP00000367446.3:n.1164+47C= | |
| ENST00000436216.2:c.532+47C= | ||
| ENST00000378204.6:c.1164+47C= | ENSP00000367446.2:n.1164+47C= | |
| ENST00000436216.1:c.532+47C= | ||
| ENST00000437196.1:c.*55+47C= | ENSP00000407299.1:n.*55+47C= | |
| NM_000127.2:c.1164+47C= , LRG_493t1:c.1164+47C= | NP_000118.2:n.1164+47C= | |
| NM_000127.3:c.1164+47C= MANE Select | NP_000118.2:n.1164+47C= |