Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562893T>C , CM000682.2:g.57562893T>C | GRCh38 |
| NC_000020.10:g.56137949T>C , CM000682.1:g.56137949T>C | GRCh37 |
| NC_000020.9:g.55571355T>C | NCBI36 |
| NG_008205.1:g.6813T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.604T>C MANE Select | ENSP00000319814.4:p.Leu202= | |
| ENST00000319441.5:c.604T>C | ENSP00000319814.4:p.Leu202= | |
| ENST00000467047.1:n.1814T>C | ||
| ENST00000470051.1:n.60T>C | ||
| ENST00000498194.1:n.546T>C | ||
| NM_002591.3:c.604T>C | NP_002582.3:p.Leu202= | |
| XM_011528839.1:c.208T>C | XP_011527141.1:p.Leu70= | |
| XM_024451888.1:c.208T>C | XP_024307656.1:p.Leu70= | |
| NM_002591.4:c.604T>C MANE Select | NP_002582.3:p.Leu202= |