Linked Data
ClinVar Variation Id:
218841
dbSNP Id:
rs200988634
ExAC:
16:21747639 G / T
gnomAD v2:
16-21747639-G-T
gnomAD v3:
16-21736318-G-T
gnomAD v4:
16-21736318-G-T
COSMIC:
COSM6300567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21736318G>T , CM000678.2:g.21736318G>T | GRCh38 |
| NC_000016.9:g.21747639G>T , CM000678.1:g.21747639G>T | GRCh37 |
| NC_000016.8:g.21655140G>T | NCBI36 |
| NG_012973.1:g.62805G>T | |
| NG_012973.2:g.77186G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388958.8:c.2359G>T | ENSP00000373610.3:p.Glu787Ter | |
| ENST00000646100.2:c.2359G>T MANE Select | ENSP00000496564.2:p.Glu787Ter | |
| ENST00000647277.1:c.*1173G>T | ENSP00000495594.1:n.*1173G>T | |
| ENST00000286149.8:c.2401G>T | ENSP00000286149.4:p.Glu801Ter | |
| ENST00000388956.8:c.2122G>T | ENSP00000373608.4:p.Glu708Ter | |
| ENST00000388957.3:c.1387G>T | ENSP00000373609.3:p.Glu463Ter | |
| ENST00000388958.7:c.2359G>T | ENSP00000373610.3:p.Glu787Ter | |
| ENST00000563506.1:n.1418G>T | ||
| ENST00000563871.5:n.1822G>T | ||
| NM_001161683.1:c.2122G>T | NP_001155155.1:p.Glu708Ter | |
| NM_144672.3:c.2359G>T | NP_653273.3:p.Glu787Ter | |
| NM_170664.2:c.1387G>T | NP_733764.1:p.Glu463Ter | |
| XM_011545747.1:c.2359G>T | XP_011544049.1:p.Glu787Ter | |
| XM_011545748.1:c.1228G>T | XP_011544050.1:p.Glu410Ter | |
| NM_144672.4:c.2359G>T MANE Select | NP_653273.3:p.Glu787Ter | |
| XM_011545748.2:c.1228G>T | XP_011544050.2:p.Glu410Ter | |
| XM_017022951.1:c.625G>T | XP_016878440.1:p.Glu209Ter | |
| XR_002957775.1:n.1454G>T | ||
| NM_001161683.2:c.2122G>T | NP_001155155.1:p.Glu708Ter | |
| NM_170664.3:c.1387G>T | NP_733764.1:p.Glu463Ter |