Linked Data
dbSNP Id:
rs746174558
ExAC:
11:1861856 G / T
gnomAD v2:
11-1861856-G-T
gnomAD v4:
11-1840626-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1840626G>T , CM000673.2:g.1840626G>T | GRCh38 |
| NC_000011.9:g.1861856G>T , CM000673.1:g.1861856G>T | GRCh37 |
| NC_000011.8:g.1818432G>T | NCBI36 |
| NG_011621.1:g.6624G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381911.6:c.156G>T MANE Select | ENSP00000371336.1:p.Leu52= | |
| ENST00000252898.11:c.156G>T | ENSP00000252898.7:p.Leu52= | |
| ENST00000381905.3:c.156G>T | ENSP00000371330.3:p.Leu52= | |
| ENST00000381906.5:c.156G>T | ENSP00000371331.1:p.Leu52= | |
| ENST00000381911.5:c.156G>T | ENSP00000371336.1:p.Leu52= | |
| ENST00000468473.1:n.326G>T | ||
| ENST00000617947.4:c.156G>T | ENSP00000481242.1:p.Leu52= | |
| NM_001145829.1:c.156G>T | NP_001139301.1:p.Leu52= | |
| NM_001145841.1:c.156G>T | NP_001139313.1:p.Leu52= | |
| NM_003282.3:c.156G>T | NP_003273.1:p.Leu52= | |
| NM_003282.4:c.156G>T MANE Select | NP_003273.1:p.Leu52= | |
| NM_001145829.2:c.156G>T | NP_001139301.1:p.Leu52= | |
| NM_001145841.2:c.156G>T | NP_001139313.1:p.Leu52= |