Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80471829T>C , CM000679.2:g.80471829T>C | GRCh38 |
| NC_000017.10:g.78445629T>C , CM000679.1:g.78445629T>C | GRCh37 |
| NC_000017.9:g.76060224T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571100.2:c.266A>G | ENSP00000511957.1:p.Glu89Gly | |
| ENST00000695485.1:n.403A>G | ||
| ENST00000306773.5:c.980A>G MANE Select | ENSP00000307549.4:p.Glu327Gly | |
| ENST00000306773.4:c.980A>G | ENSP00000307549.4:p.Glu327Gly | |
| ENST00000535681.1:n.1582A>G | ||
| NM_002522.3:c.980A>G | NP_002513.2:p.Glu327Gly | |
| NM_002522.4:c.980A>G MANE Select | NP_002513.2:p.Glu327Gly |