Linked Data
ClinVar Variation Id:
506813
dbSNP Id:
rs200845330
ExAC:
11:72145270 G / A
gnomAD v2:
11-72145270-G-A
gnomAD v3:
11-72434226-G-A
gnomAD v4:
11-72434226-G-A
COSMIC:
COSM1510107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72434226G>A , CM000673.2:g.72434226G>A | GRCh38 |
| NC_000011.9:g.72145270G>A , CM000673.1:g.72145270G>A | GRCh37 |
| NC_000011.8:g.71822918G>A | NCBI36 |
| NG_042130.1:g.5459C>T | |
| NG_042130.2:g.5459C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000535990.6:c.249C>T | ENSP00000443822.2:p.Leu83= | |
| ENST00000542555.3:c.249C>T | ENSP00000496231.2:p.Leu83= | |
| ENST00000695924.1:n.320C>T | ||
| ENST00000695925.1:n.320C>T | ||
| ENST00000695926.1:n.320C>T | ||
| ENST00000294053.9:c.249C>T MANE Plus Clinical | ENSP00000294053.3:p.Leu83= | |
| ENST00000535477.6:c.249C>T | ENSP00000440423.2:p.Leu83= | |
| ENST00000538039.6:c.249C>T MANE Select | ENSP00000441518.1:p.Leu83= | |
| ENST00000542555.2:c.105C>T | ENSP00000496231.1:p.Leu35= | |
| ENST00000543042.6:c.249C>T | ENSP00000439746.2:p.Leu83= | |
| ENST00000646117.1:c.249C>T | ENSP00000495421.1:p.Leu83= | |
| ENST00000294053.7:c.249C>T | ENSP00000294053.3:p.Leu83= | |
| ENST00000340729.9:c.249C>T | ENSP00000340385.5:p.Leu83= | |
| ENST00000437826.6:c.7C>T | ENSP00000407296.2:p.Arg3Cys | |
| ENST00000445069.4:n.230+158C>T | ||
| ENST00000535477.5:c.249C>T | ENSP00000440423.1:p.Leu83= | |
| ENST00000535990.5:c.157C>T | ENSP00000443822.1:p.Arg53Cys | |
| ENST00000538039.5:c.249C>T | ENSP00000441518.1:p.Leu83= | |
| ENST00000543042.5:c.-140C>T | ENSP00000439746.1:n.-140C>T | |
| NM_001258392.1:c.249C>T | NP_001245321.1:p.Leu83= | |
| NM_001258392.2:c.249C>T | NP_001245321.1:p.Leu83= | |
| NM_001258393.1:c.249C>T | NP_001245322.1:p.Leu83= | |
| NM_001258393.2:c.249C>T | NP_001245322.1:p.Leu83= | |
| NM_001258394.1:c.7C>T | NP_001245323.1:p.Arg3Cys | |
| NM_001258394.2:c.7C>T | NP_001245323.1:p.Arg3Cys | |
| NM_030813.4:c.249C>T | NP_110440.1:p.Leu83= | |
| NM_030813.5:c.249C>T | NP_110440.1:p.Leu83= | |
| XM_005274320.1:c.249C>T | XP_005274377.1:p.Leu83= | |
| XM_011545288.1:c.249C>T | XP_011543590.1:p.Leu83= | |
| XM_011545289.1:c.249C>T | XP_011543591.1:p.Leu83= | |
| XM_011545289.2:c.249C>T | XP_011543591.1:p.Leu83= | |
| NM_001258392.3:c.249C>T MANE Select | NP_001245321.1:p.Leu83= | |
| NM_001258393.3:c.249C>T | NP_001245322.1:p.Leu83= | |
| NM_030813.6:c.249C>T MANE Plus Clinical | NP_110440.1:p.Leu83= | |
| NM_001258394.3:c.7C>T | NP_001245323.1:p.Arg3Cys |