Linked Data
gnomAD v4:
10-110644458-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110644458G>C , CM000672.2:g.110644458G>C | GRCh38 |
| NC_000010.10:g.112404216G>C , CM000672.1:g.112404216G>C | GRCh37 |
| NC_000010.9:g.112394206G>C | NCBI36 |
| NG_021177.1:g.5062G>C , LRG_382:g.5062G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.4G>C MANE Select | ENSP00000358532.3:p.Val2Leu | |
| ENST00000369519.3:c.4G>C | ENSP00000358532.3:p.Val2Leu | |
| NM_001134363.2:c.4G>C | NP_001127835.2:p.Val2Leu | |
| XM_017016103.2:c.26+1018G>C | XP_016871592.1:n.26+1018G>C | |
| NM_001134363.3:c.4G>C MANE Select | NP_001127835.2:p.Val2Leu |