Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302121C>G , CM000681.2:g.33302121C>G | GRCh38 |
| NC_000019.9:g.33793027C>G , CM000681.1:g.33793027C>G | GRCh37 |
| NC_000019.8:g.38484867C>G | NCBI36 |
| NG_012022.1:g.5404G>C , LRG_456:g.5404G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.294G>C MANE Select | ENSP00000427514.1:p.Thr98= | |
| ENST00000498907.2:c.294G>C | ENSP00000427514.1:p.Thr98= | |
| NM_001285829.1:c.-64G>C | NP_001272758.1:n.-64G>C | |
| NM_001287424.1:c.399G>C | NP_001274353.1:p.Thr133= | |
| NM_001287435.1:c.252G>C | NP_001274364.1:p.Thr84= | |
| NM_004364.4:c.294G>C | NP_004355.2:p.Thr98= | |
| NM_001287424.2:c.399G>C | NP_001274353.1:p.Thr133= | |
| NM_004364.5:c.294G>C MANE Select | NP_004355.2:p.Thr98= | |
| NM_001285829.2:c.-64G>C | NP_001272758.1:n.-64G>C | |
| NM_001287435.2:c.252G>C | NP_001274364.1:p.Thr84= |