Linked Data
ClinVar Variation Id:
281353
dbSNP Id:
rs886042137
gnomAD v3:
1-54871415-G-T
gnomAD v4:
1-54871415-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54871415G>T , CM000663.2:g.54871415G>T | GRCh38 |
| NC_000001.10:g.55337088G>T , CM000663.1:g.55337088G>T | GRCh37 |
| NC_000001.9:g.55109676G>T | NCBI36 |
| NG_008839.1:g.20834C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.811C>A MANE Select | ENSP00000360316.3:p.Leu271Ile | |
| ENST00000436604.2:c.811C>A | ENSP00000416585.2:p.Leu271Ile | |
| ENST00000535035.6:c.811C>A | ENSP00000440191.3:p.Leu271Ile | |
| ENST00000647585.1:n.615C>A | ||
| ENST00000647912.1:c.*446C>A | ENSP00000497559.1:n.*446C>A | |
| ENST00000648712.1:n.929C>A | ||
| ENST00000648728.1:c.*466C>A | ENSP00000497084.1:n.*466C>A | |
| ENST00000649769.1:c.*466C>A | ENSP00000498012.1:n.*466C>A | |
| ENST00000371269.7:c.811C>A | ENSP00000360316.3:p.Leu271Ile | |
| ENST00000535035.5:c.544C>A | ENSP00000440191.2:p.Leu182Ile | |
| NM_014762.3:c.811C>A | NP_055577.1:p.Leu271Ile | |
| NM_014762.4:c.811C>A MANE Select | NP_055577.1:p.Leu271Ile |