Linked Data
ClinVar Variation Id:
385737
ClinVar RCV Id:
RCV002402168
dbSNP Id:
rs200033529
ExAC:
15:73621944 C / T
gnomAD v2:
15-73621944-C-T
gnomAD v3:
15-73329603-C-T
gnomAD v4:
15-73329603-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329603C>T , CM000677.2:g.73329603C>T | GRCh38 |
| NC_000015.9:g.73621944C>T , CM000677.1:g.73621944C>T | GRCh37 |
| NC_000015.8:g.71408997C>T | NCBI36 |
| NG_009063.1:g.44662G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.1560G>A MANE Select | ENSP00000261917.3:p.Leu520= | |
| ENST00000261917.3:c.1560G>A | ENSP00000261917.3:p.Leu520= | |
| NM_005477.2:c.1560G>A | NP_005468.1:p.Leu520= | |
| XM_011521148.1:c.342G>A | XP_011519450.1:p.Leu114= | |
| XM_011521148.2:c.342G>A | XP_011519450.1:p.Leu114= | |
| NM_005477.3:c.1560G>A MANE Select | NP_005468.1:p.Leu520= |