Linked Data
ClinVar Variation Id:
538089
ClinVar RCV Id:
RCV000647246
dbSNP Id:
rs1165134160
gnomAD v2:
15-73615081-A-G
gnomAD v3:
15-73322740-A-G
gnomAD v4:
15-73322740-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322740A>G , CM000677.2:g.73322740A>G | GRCh38 |
| NC_000015.9:g.73615081A>G , CM000677.1:g.73615081A>G | GRCh37 |
| NC_000015.8:g.71402134A>G | NCBI36 |
| NG_009063.1:g.51525T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.3353T>C MANE Select | ENSP00000261917.3:p.Leu1118Pro | |
| ENST00000261917.3:c.3353T>C | ENSP00000261917.3:p.Leu1118Pro | |
| NM_005477.2:c.3353T>C | NP_005468.1:p.Leu1118Pro | |
| XM_011521148.1:c.2135T>C | XP_011519450.1:p.Leu712Pro | |
| XM_011521148.2:c.2135T>C | XP_011519450.1:p.Leu712Pro | |
| NM_005477.3:c.3353T>C MANE Select | NP_005468.1:p.Leu1118Pro |