Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10672978A>G , CM000682.2:g.10672978A>G | GRCh38 |
| NC_000020.10:g.10653626A>G , CM000682.1:g.10653626A>G | GRCh37 |
| NC_000020.9:g.10601626A>G | NCBI36 |
| NG_007496.1:g.6069T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.110T>C MANE Select | NP_000205.1:p.Leu37Ser |
| ENST00000254958.10:c.110T>C MANE Select | ENSP00000254958.4:p.Leu37Ser |
| NM_000214.2:c.110T>C | NP_000205.1:p.Leu37Ser |
| ENST00000254958.9:c.110T>C | ENSP00000254958.4:p.Leu37Ser |