Linked Data
ClinVar Variation Id:
1369977
ClinVar RCV Id:
RCV001876917
dbSNP Id:
rs1209424601
gnomAD v2:
15-73614940-A-G
gnomAD v4:
15-73322599-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322599A>G , CM000677.2:g.73322599A>G | GRCh38 |
| NC_000015.9:g.73614940A>G , CM000677.1:g.73614940A>G | GRCh37 |
| NC_000015.8:g.71401993A>G | NCBI36 |
| NG_009063.1:g.51666T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3494T>C MANE Select | ENSP00000261917.3:p.Leu1165Pro | |
| ENST00000261917.3:c.3494T>C | ENSP00000261917.3:p.Leu1165Pro | |
| NM_005477.2:c.3494T>C | NP_005468.1:p.Leu1165Pro | |
| XM_011521148.1:c.2276T>C | XP_011519450.1:p.Leu759Pro | |
| XM_011521148.2:c.2276T>C | XP_011519450.1:p.Leu759Pro | |
| NM_005477.3:c.3494T>C MANE Select | NP_005468.1:p.Leu1165Pro |