Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124748043A= , CM000673.2:g.124748043A= | GRCh38 |
| NC_000011.9:g.124617939A= , CM000673.1:g.124617939A= | GRCh37 |
| NC_000011.8:g.124123149A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326621.10:c.851+347T= MANE Select | ENSP00000318684.5:n.851+347T= | |
| ENST00000326621.9:c.851+347T= | ENSP00000318684.5:n.851+347T= | |
| NM_014312.3:c.851+347T= | NP_055127.2:n.851+347T= | |
| XM_011542727.1:c.1211+347T= | XP_011541029.1:n.1211+347T= | |
| XM_011542728.1:c.845+347T= | XP_011541030.1:n.845+347T= | |
| XR_428973.2:n.1642+347T= | ||
| NM_014312.4:c.851+347T= | NP_055127.2:n.851+347T= | |
| NM_014312.5:c.851+347T= MANE Select | NP_055127.2:n.851+347T= |