Linked Data
dbSNP Id:
rs954546921
gnomAD v2:
11-1774834-C-T
gnomAD v3:
11-1753604-C-T
gnomAD v4:
11-1753604-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753604C>T , CM000673.2:g.1753604C>T | GRCh38 |
| NC_000011.9:g.1774834C>T , CM000673.1:g.1774834C>T | GRCh37 |
| NC_000011.8:g.1731410C>T | NCBI36 |
| NG_008655.1:g.15389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1138G>A MANE Select | ENSP00000236671.2:p.Gly380Arg | |
| ENST00000367196.4:c.1033G>A | ENSP00000356164.4:p.Gly345Arg | |
| ENST00000427721.3:c.563G>A | ||
| ENST00000429746.2:c.1033G>A | ENSP00000402586.2:p.Gly345Arg | |
| ENST00000433655.6:c.*304G>A | ENSP00000404902.1:n.*304G>A | |
| ENST00000438213.6:c.1255G>A | ENSP00000415036.2:p.Gly419Arg | |
| ENST00000636397.1:c.1071+199G>A | ENSP00000489910.1:n.1071+199G>A | |
| ENST00000636571.1:c.1117G>A | ENSP00000490770.1:p.Gly373Arg | |
| ENST00000636579.1:c.72+199G>A | ENSP00000490489.1:n.72+199G>A | |
| ENST00000636615.1:c.1071+199G>A | ENSP00000490014.1:n.1071+199G>A | |
| ENST00000636843.1:c.1132G>A | ENSP00000490897.1:p.Gly378Arg | |
| ENST00000637158.1:n.736G>A | ||
| ENST00000637381.2:n.3566G>A | ||
| ENST00000637387.1:c.1117G>A | ENSP00000490598.1:p.Gly373Arg | |
| ENST00000637815.2:c.1120G>A | ENSP00000490344.1:p.Gly374Arg | |
| ENST00000637915.1:c.1129G>A | ENSP00000490471.1:p.Gly377Arg | |
| ENST00000637937.1:n.446G>A | ||
| ENST00000678991.1:c.*999G>A | ENSP00000503019.1:n.*999G>A | |
| ENST00000236671.6:c.1138G>A | ENSP00000236671.2:p.Gly380Arg | |
| ENST00000427721.2:c.471+199G>A | ENSP00000415840.2:n.471+199G>A | |
| ENST00000429746.1:c.469G>A | ENSP00000402586.1:p.Gly157Arg | |
| ENST00000433655.5:c.*304G>A | ENSP00000404902.1:n.*304G>A | |
| NM_001909.4:c.1138G>A | NP_001900.1:p.Gly380Arg | |
| NM_001909.5:c.1138G>A MANE Select | NP_001900.1:p.Gly380Arg |