Linked Data
ClinVar Variation Id:
1617413
ClinVar RCV Id:
RCV002076581
dbSNP Id:
rs755241265
ExAC:
2:73717126 G / T
gnomAD v2:
2-73717126-G-T
gnomAD v4:
2-73489999-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489999G>T , CM000664.2:g.73489999G>T | GRCh38 |
| NC_000002.11:g.73717126G>T , CM000664.1:g.73717126G>T | GRCh37 |
| NC_000002.10:g.73570634G>T | NCBI36 |
| NG_011690.1:g.109247G>T , LRG_741:g.109247G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7659G>T | ENSP00000507671.1:p.Leu2553= | |
| ENST00000682801.1:c.7659G>T | ENSP00000507862.1:p.Leu2553= | |
| ENST00000682859.1:c.7659G>T | ENSP00000508222.1:p.Leu2553= | |
| ENST00000683791.1:c.1051G>T | ||
| ENST00000684460.1:c.5111G>T | ||
| ENST00000684548.1:c.7659G>T | ENSP00000507421.1:p.Leu2553= | |
| ENST00000684590.1:c.2106G>T | ENSP00000507376.1:p.Leu702= | |
| ENST00000684656.1:c.5111G>T | ||
| ENST00000613296.6:c.8040G>T MANE Select | ENSP00000482968.1:p.Leu2680= | |
| ENST00000651434.1:c.896-29776G>T | ||
| ENST00000423048.5:c.2871G>T | ENSP00000399833.1:p.Leu957= | |
| ENST00000484298.5:c.7914G>T | ENSP00000478155.1:p.Leu2638= | |
| ENST00000613296.4:c.8040G>T | ENSP00000482968.1:p.Leu2680= | |
| ENST00000614410.4:c.8040G>T | ENSP00000479094.1:p.Leu2680= | |
| ENST00000620466.4:n.1843G>T | ||
| NM_015120.4:c.8043G>T , LRG_741t1:c.8043G>T | NP_055935.4:p.Leu2681= | |
| NM_001378454.1:c.8040G>T MANE Select | NP_001365383.1:p.Leu2680= |