Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7934209G>A , CM000681.2:g.7934209G>A | GRCh38 |
| NC_000019.9:g.7999094G>A , CM000681.1:g.7999094G>A | GRCh37 |
| NC_000019.8:g.7905094G>A | NCBI36 |
| NG_051180.1:g.14615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.423C>T MANE Select | ENSP00000270538.2:p.Leu141= | |
| ENST00000270538.7:c.423C>T | ENSP00000270538.2:p.Leu141= | |
| ENST00000595831.5:c.410C>T | ||
| ENST00000595876.5:c.*111C>T | ENSP00000471596.1:n.*111C>T | |
| ENST00000597926.1:c.327C>T | ENSP00000469389.1:p.Leu109= | |
| ENST00000600748.5:n.408C>T | ||
| NM_006351.3:c.423C>T | NP_006342.2:p.Leu141= | |
| NM_006351.4:c.423C>T MANE Select | NP_006342.2:p.Leu141= |