Linked Data
ClinVar Variation Id:
538088
ClinVar RCV Id:
RCV000647245
dbSNP Id:
rs1302650781
gnomAD v2:
15-73616057-T-G
gnomAD v4:
15-73323716-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323716T>G , CM000677.2:g.73323716T>G | GRCh38 |
| NC_000015.9:g.73616057T>G , CM000677.1:g.73616057T>G | GRCh37 |
| NC_000015.8:g.71403110T>G | NCBI36 |
| NG_009063.1:g.50549A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.2377A>C MANE Select | ENSP00000261917.3:p.Ile793Leu | |
| ENST00000261917.3:c.2377A>C | ENSP00000261917.3:p.Ile793Leu | |
| NM_005477.2:c.2377A>C | NP_005468.1:p.Ile793Leu | |
| XM_011521148.1:c.1159A>C | XP_011519450.1:p.Ile387Leu | |
| XM_011521148.2:c.1159A>C | XP_011519450.1:p.Ile387Leu | |
| NM_005477.3:c.2377A>C MANE Select | NP_005468.1:p.Ile793Leu |