Linked Data
MyVariant Identifiers:
chr21:g.33039685G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667372G>C , CM000683.2:g.31667372G>C | GRCh38 |
| NC_000021.8:g.33039685G>C , CM000683.1:g.33039685G>C | GRCh37 |
| NC_000021.7:g.31961556G>C | NCBI36 |
| NG_008689.1:g.12751G>C , LRG_652:g.12751G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.354G>C MANE Select | ENSP00000270142.7:p.Leu118= | |
| ENST00000270142.10:c.354G>C | ENSP00000270142.6:p.Leu118= | |
| ENST00000389995.4:c.297G>C | ENSP00000374645.4:p.Leu99= | |
| ENST00000470944.1:n.1282G>C | ||
| NM_000454.4:c.354G>C , LRG_652t1:c.354G>C | NP_000445.1:p.Leu118= | |
| NM_000454.5:c.354G>C MANE Select | NP_000445.1:p.Leu118= |