Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740519T>C , CM000666.2:g.67740519T>C | GRCh38 |
| NC_000004.11:g.68606237T>C , CM000666.1:g.68606237T>C | GRCh37 |
| NC_000004.10:g.68288832T>C | NCBI36 |
| NG_009293.1:g.20568A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.948A>G MANE Select | ENSP00000226413.5:p.Pro316= | |
| ENST00000226413.4:c.948A>G | ENSP00000226413.4:p.Pro316= | |
| ENST00000420975.2:c.820A>G | ENSP00000397561.2:n.820A>G | |
| NM_000406.2:c.948A>G | NP_000397.1:p.Pro316= | |
| NM_001012763.1:c.*70A>G | NP_001012781.1:n.*70A>G | |
| NM_000406.3:c.948A>G MANE Select | NP_000397.1:p.Pro316= | |
| NM_001012763.2:c.*70A>G | NP_001012781.1:n.*70A>G |