Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101215953G>A , CM000669.2:g.101215953G>A | GRCh38 |
| NC_000007.13:g.100859234G>A , CM000669.1:g.100859234G>A | GRCh37 |
| NC_000007.12:g.100645954G>A | NCBI36 |
| NG_012148.1:g.6778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223127.8:c.570C>T MANE Select | ENSP00000223127.3:p.Asp190= | |
| ENST00000223127.7:c.570C>T | ENSP00000223127.3:p.Asp190= | |
| ENST00000421736.1:c.68C>T | ||
| ENST00000424135.5:c.335C>T | ENSP00000404799.1:p.Thr112Met | |
| ENST00000478082.5:n.607C>T | ||
| ENST00000489927.1:n.517C>T | ||
| NM_001084.4:c.570C>T | NP_001075.1:p.Asp190= | |
| NM_001084.5:c.570C>T MANE Select | NP_001075.1:p.Asp190= |