Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172029T>C , CM000683.2:g.43172029T>C | GRCh38 |
| NG_009823.1:g.7999T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.313-42T>C MANE Select | ENSP00000291554.2:n.313-42T>C | |
| ENST00000398132.1:c.202-42T>C | ENSP00000381200.1:n.202-42T>C | |
| ENST00000398133.5:c.253-42T>C | ENSP00000381201.1:n.253-42T>C | |
| ENST00000468016.1:n.414-42T>C | ||
| ENST00000482775.1:n.394-42T>C | ||
| NM_000394.3:c.313-42T>C | NP_000385.1:n.313-42T>C | |
| XM_005261093.2:c.202-42T>C | XP_005261150.1:n.202-42T>C | |
| NM_001363766.1:c.202-42T>C | NP_001350695.1:n.202-42T>C | |
| NM_000394.4:c.313-42T>C MANE Select | NP_000385.1:n.313-42T>C |