Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019535C>G , CM000674.2:g.6019535C>G | GRCh38 |
| NC_000012.11:g.6128701C>G , CM000674.1:g.6128701C>G | GRCh37 |
| NC_000012.10:g.5998962C>G | NCBI36 |
| NG_009072.1:g.110136G>C | |
| NG_009072.2:g.110136G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.3883G>C MANE Select | NP_000543.3:p.Val1295Leu |
| ENST00000261405.10:c.3883G>C MANE Select | ENSP00000261405.5:p.Val1295Leu |
| NM_000552.3:c.3883G>C | NP_000543.2:p.Val1295Leu |
| NM_000552.4:c.3883G>C | NP_000543.2:p.Val1295Leu |
| ENST00000261405.9:c.3883G>C | ENSP00000261405.5:p.Val1295Leu |
| ENST00000538635.5:n.421-25601G>C | |
| ENST00000539641.1:n.681G>C |