Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565489G>T , CM000682.2:g.57565489G>T | GRCh38 |
| NC_000020.10:g.56140545G>T , CM000682.1:g.56140545G>T | GRCh37 |
| NC_000020.9:g.55573951G>T | NCBI36 |
| NG_008205.1:g.9409G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1554G>T MANE Select | ENSP00000319814.4:p.Arg518= | |
| ENST00000319441.5:c.1554G>T | ENSP00000319814.4:p.Arg518= | |
| ENST00000467047.1:n.4196G>T | ||
| NM_002591.3:c.1554G>T | NP_002582.3:p.Arg518= | |
| XM_011528839.1:c.1158G>T | XP_011527141.1:p.Arg386= | |
| XM_024451888.1:c.1158G>T | XP_024307656.1:p.Arg386= | |
| NM_002591.4:c.1554G>T MANE Select | NP_002582.3:p.Arg518= |