Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3121120T>C , CM000681.2:g.3121120T>C | GRCh38 |
| NC_000019.9:g.3121118T>C , CM000681.1:g.3121118T>C | GRCh37 |
| NC_000019.8:g.3072118T>C | NCBI36 |
| NG_033852.2:g.31711T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002067.5:c.1021T>C MANE Select | NP_002058.2:p.Phe341Leu |
| ENST00000078429.9:c.1021T>C MANE Select | ENSP00000078429.3:p.Phe341Leu |
| NM_002067.4:c.1021T>C | NP_002058.2:p.Phe341Leu |
| ENST00000078429.8:c.1021T>C | ENSP00000078429.3:p.Phe341Leu |
| ENST00000586180.1:n.540T>C | |
| ENST00000587636.1:c.567T>C | |
| ENST00000590534.1:n.2342T>C |