Linked Data
ClinVar Variation Id:
3006577
ClinVar RCV Id:
RCV003861192
dbSNP Id:
rs769045969
ExAC:
8:48701718 G / A
gnomAD v2:
8-48701718-G-A
gnomAD v4:
8-47789157-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47789157G>A , CM000670.2:g.47789157G>A | GRCh38 |
| NC_000008.10:g.48701718G>A , CM000670.1:g.48701718G>A | GRCh37 |
| NC_000008.9:g.48864271G>A | NCBI36 |
| NG_023435.1:g.176027C>T , LRG_162:g.176027C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697602.1:n.1325C>T | ||
| ENST00000697603.1:c.3429C>T | ENSP00000513358.1:p.Leu1143= | |
| ENST00000314191.7:c.10752C>T MANE Select | ENSP00000313420.3:p.Leu3584= | |
| ENST00000314191.6:c.10752C>T | ENSP00000313420.3:p.Leu3584= | |
| ENST00000338368.7:c.10752C>T | ENSP00000345182.4:p.Leu3584= | |
| NM_001081640.1:c.10752C>T | NP_001075109.1:p.Leu3584= | |
| NM_006904.6:c.10752C>T , LRG_162t1:c.10752C>T | NP_008835.5:p.Leu3584= | |
| XM_011517567.1:c.10755C>T | XP_011515869.1:p.Leu3585= | |
| XM_011517568.1:c.10755C>T | XP_011515870.1:p.Leu3585= | |
| NM_001081640.2:c.10752C>T | NP_001075109.1:p.Leu3584= | |
| NM_006904.7:c.10752C>T MANE Select | NP_008835.5:p.Leu3584= |