Linked Data
ClinVar Variation Id:
1154471
ClinVar RCV Id:
RCV001496473
dbSNP Id:
rs780039925
ExAC:
17:1554105 C / T
gnomAD v2:
17-1554105-C-T
gnomAD v3:
17-1650811-C-T
gnomAD v4:
17-1650811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650811C>T , CM000679.2:g.1650811C>T | GRCh38 |
| NC_000017.10:g.1554105C>T , CM000679.1:g.1554105C>T | GRCh37 |
| NC_000017.9:g.1500855C>T | NCBI36 |
| NG_009118.1:g.39072G>A | |
| NG_033061.1:g.4288G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6819G>A | ENSP00000460849.2:p.Leu2273= | |
| ENST00000703537.1:c.2747G>A | ||
| ENST00000703538.1:c.*6722G>A | ENSP00000515361.1:n.*6722G>A | |
| ENST00000703539.1:n.3313G>A | ||
| ENST00000703540.1:c.6852G>A | ENSP00000515362.1:p.Leu2284= | |
| ENST00000703541.1:c.6864G>A | ENSP00000515363.1:p.Leu2288= | |
| ENST00000304992.11:c.6999G>A MANE Select | ENSP00000304350.6:p.Leu2333= | |
| ENST00000304992.10:c.6999G>A | ENSP00000304350.6:p.Leu2333= | |
| ENST00000571958.1:c.198G>A | ||
| ENST00000572621.5:c.6999G>A | ENSP00000460348.1:p.Leu2333= | |
| NM_006445.3:c.6999G>A | NP_006436.3:p.Leu2333= | |
| XM_024450537.1:c.6999G>A | XP_024306305.1:p.Leu2333= | |
| NM_006445.4:c.6999G>A MANE Select | NP_006436.3:p.Leu2333= |