Linked Data
ClinVar Variation Id:
1672404
ClinVar RCV Id:
RCV002210508
dbSNP Id:
rs1215210213
gnomAD v3:
13-20189552-C-G
gnomAD v4:
13-20189552-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189552C>G , CM000675.2:g.20189552C>G | GRCh38 |
| NC_000013.10:g.20763691C>G , CM000675.1:g.20763691C>G | GRCh37 |
| NC_000013.9:g.19661691C>G | NCBI36 |
| NG_008358.1:g.8424G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.30G>C | ENSP00000372295.1:p.Leu10= | |
| ENST00000382848.5:c.30G>C MANE Select | ENSP00000372299.4:p.Leu10= | |
| ENST00000382844.1:c.30G>C | ENSP00000372295.1:p.Leu10= | |
| ENST00000382848.4:c.30G>C | ENSP00000372299.4:p.Leu10= | |
| NM_004004.5:c.30G>C | NP_003995.2:p.Leu10= | |
| XM_011535049.1:c.30G>C | XP_011533351.1:p.Leu10= | |
| XM_011535049.2:c.30G>C | XP_011533351.1:p.Leu10= | |
| NM_004004.6:c.30G>C MANE Select | NP_003995.2:p.Leu10= |