Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.26490101T>G , CM000666.2:g.26490101T>G | GRCh38 |
| NC_000004.11:g.26491723T>G , CM000666.1:g.26491723T>G | GRCh37 |
| NC_000004.10:g.26100821T>G | NCBI36 |
| NG_012053.1:g.5320A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295589.4:c.112+55A>C MANE Select | ENSP00000295589.3:n.112+55A>C | |
| ENST00000295589.3:c.112+55A>C | ENSP00000295589.3:n.112+55A>C | |
| NM_000730.2:c.112+55A>C | NP_000721.1:n.112+55A>C | |
| NM_000730.3:c.112+55A>C MANE Select | NP_000721.1:n.112+55A>C |