Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562894T= , CM000682.2:g.57562894T= | GRCh38 |
| NC_000020.10:g.56137950T= , CM000682.1:g.56137950T= | GRCh37 |
| NC_000020.9:g.55571356T= | NCBI36 |
| NG_008205.1:g.6814T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.605T= MANE Select | ENSP00000319814.4:p.Leu202= | |
| ENST00000319441.5:c.605T= | ENSP00000319814.4:p.Leu202= | |
| ENST00000467047.1:n.1815T= | ||
| ENST00000470051.1:n.61T= | ||
| ENST00000498194.1:n.547T= | ||
| NM_002591.3:c.605T= | NP_002582.3:p.Leu202= | |
| XM_011528839.1:c.209T= | XP_011527141.1:p.Leu70= | |
| XM_024451888.1:c.209T= | XP_024307656.1:p.Leu70= | |
| NM_002591.4:c.605T= MANE Select | NP_002582.3:p.Leu202= |