Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843203G= , CM000676.2:g.22843203G= | GRCh38 |
| NC_000014.8:g.23312412G= , CM000676.1:g.23312412G= | GRCh37 |
| NC_000014.7:g.22382252G= | NCBI36 |
| NG_046989.1:g.11671G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.689-54G= MANE Select | ENSP00000308208.6:n.689-54G= | |
| ENST00000548162.2:c.689-54G= | ENSP00000506068.1:n.689-54G= | |
| ENST00000680097.1:c.*4-54G= | ENSP00000506631.1:n.*4-54G= | |
| ENST00000680941.1:c.*86+31G= | ENSP00000506378.1:n.*86+31G= | |
| ENST00000311852.10:c.689-54G= | ENSP00000308208.6:n.689-54G= | |
| ENST00000548162.1:n.931-54G= | ||
| NM_004995.3:c.689-54G= | NP_004986.1:n.689-54G= | |
| NM_004995.4:c.689-54G= MANE Select | NP_004986.1:n.689-54G= |