Linked Data
ClinVar Variation Id:
226333
dbSNP Id:
rs121908029
ExAC:
19:11216264 G / T
gnomAD v2:
19-11216264-G-T
gnomAD v3:
19-11105588-G-T
gnomAD v4:
19-11105588-G-T
PubMed:
PMID:1301956
PMID:7649546
PMID:7903864
PMID:9409298
PMID:10735632
PMID:15199436
PMID:15359125
PMID:15556092
PMID:17087781
PMID:17094996
PMID:17539906
PMID:19118540
PMID:23375686
PMID:26343872
PMID:27765764
ERepo:
CA044327/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105588G>T , CM000681.2:g.11105588G>T | GRCh38 |
| NC_000019.9:g.11216264G>T , CM000681.1:g.11216264G>T | GRCh37 |
| NC_000019.8:g.11077264G>T | NCBI36 |
| NG_009060.1:g.21208G>T , LRG_274:g.21208G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.940G>T | ENSP00000252444.6:p.Glu314Ter | |
| ENST00000559340.2:c.682G>T | ENSP00000453696.2:p.Glu228Ter | |
| ENST00000560467.2:c.682G>T | ENSP00000453513.2:p.Glu228Ter | |
| ENST00000558518.6:c.682G>T MANE Select | ENSP00000454071.1:p.Glu228Ter | |
| ENST00000252444.9:c.936G>T | ||
| ENST00000455727.6:c.314-1804G>T | ENSP00000397829.2:n.314-1804G>T | |
| ENST00000535915.5:c.559G>T | ENSP00000440520.1:p.Glu187Ter | |
| ENST00000545707.5:c.314-977G>T | ENSP00000437639.1:n.314-977G>T | |
| ENST00000557933.5:c.682G>T | ENSP00000453557.1:p.Glu228Ter | |
| ENST00000558013.5:c.682G>T | ENSP00000453346.1:p.Glu228Ter | |
| ENST00000558518.5:c.682G>T | ENSP00000454071.1:p.Glu228Ter | |
| ENST00000560467.1:c.282G>T | ||
| NM_000527.4:c.682G>T , LRG_274t1:c.682G>T | NP_000518.1:p.Glu228Ter | |
| NM_001195798.1:c.682G>T | NP_001182727.1:p.Glu228Ter | |
| NM_001195799.1:c.559G>T | NP_001182728.1:p.Glu187Ter | |
| NM_001195800.1:c.314-1804G>T | NP_001182729.1:n.314-1804G>T | |
| NM_001195803.1:c.314-977G>T | NP_001182732.1:n.314-977G>T | |
| XM_011528010.1:c.682G>T | XP_011526312.1:p.Glu228Ter | |
| XM_011528011.1:c.314-977G>T | XP_011526313.1:n.314-977G>T | |
| XR_244074.2:n.832G>T | ||
| XM_011528010.2:c.682G>T | XP_011526312.1:p.Glu228Ter | |
| XR_001753685.2:n.799G>T | ||
| XR_001753686.2:n.799G>T | ||
| NM_000527.5:c.682G>T MANE Select | NP_000518.1:p.Glu228Ter | |
| NM_001195798.2:c.682G>T | NP_001182727.1:p.Glu228Ter | |
| NM_001195799.2:c.559G>T | NP_001182728.1:p.Glu187Ter | |
| NM_001195800.2:c.314-1804G>T | NP_001182729.1:n.314-1804G>T | |
| NM_001195803.2:c.314-977G>T | NP_001182732.1:n.314-977G>T |