Linked Data
ClinVar Variation Id:
1176619
dbSNP Id:
rs1335648253
gnomAD v3:
14-28767591-C-G
gnomAD v4:
14-28767591-C-G
MyVariant Identifiers:
chr14:g.29236797C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767591C>G , CM000676.2:g.28767591C>G | GRCh38 |
| NC_000014.8:g.29236797C>G , CM000676.1:g.29236797C>G | GRCh37 |
| NC_000014.7:g.28306548C>G | NCBI36 |
| NG_009367.1:g.5511C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.312C>G | ENSP00000516406.1:p.Leu104= | |
| ENST00000313071.7:c.312C>G MANE Select | ENSP00000339004.3:p.Leu104= | |
| ENST00000313071.6:c.312C>G | ENSP00000339004.3:p.Leu104= | |
| NM_005249.4:c.312C>G | NP_005240.3:p.Leu104= | |
| NM_005249.5:c.312C>G MANE Select | NP_005240.3:p.Leu104= |