Linked Data
ClinVar Variation Id:
837958
ClinVar RCV Id:
RCV001039404
dbSNP Id:
rs560268041
ExAC:
15:73614825 T / C
gnomAD v2:
15-73614825-T-C
gnomAD v3:
15-73322484-T-C
gnomAD v4:
15-73322484-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322484T>C , CM000677.2:g.73322484T>C | GRCh38 |
| NC_000015.9:g.73614825T>C , CM000677.1:g.73614825T>C | GRCh37 |
| NC_000015.8:g.71401878T>C | NCBI36 |
| NG_009063.1:g.51781A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3609A>G MANE Select | ENSP00000261917.3:p.Leu1203= | |
| ENST00000261917.3:c.3609A>G | ENSP00000261917.3:p.Leu1203= | |
| NM_005477.2:c.3609A>G | NP_005468.1:p.Leu1203= | |
| XM_011521148.1:c.2391A>G | XP_011519450.1:p.Leu797= | |
| XM_011521148.2:c.2391A>G | XP_011519450.1:p.Leu797= | |
| NM_005477.3:c.3609A>G MANE Select | NP_005468.1:p.Leu1203= |