Linked Data
ClinVar Variation Id:
40672
ClinVar RCV Id:
RCV000038514
RCV000626886
RCV000781878
RCV000788323
RCV000856735
RCV001270835
RCV001526663
RCV001813286
RCV002054543
RCV002381284
dbSNP Id:
rs397517148
gnomAD v4:
2-39023128-C-T
COSMIC:
COSM1690493
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39023128C>T , CM000664.2:g.39023128C>T | GRCh38 |
| NC_000002.11:g.39250269C>T , CM000664.1:g.39250269C>T | GRCh37 |
| NC_000002.10:g.39103773C>T | NCBI36 |
| NG_007530.1:g.102336G>A , LRG_754:g.102336G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1180G>A | ||
| ENST00000685279.1:c.67G>A | ENSP00000509424.1:p.Gly23Arg | |
| ENST00000688043.1:n.1521G>A | ||
| ENST00000689668.1:n.1307G>A | ||
| ENST00000690876.1:c.1189G>A | ENSP00000508955.1:p.Gly397Arg | |
| ENST00000691229.1:c.1189G>A | ENSP00000510437.1:p.Gly397Arg | |
| ENST00000692089.1:c.1189G>A | ENSP00000508626.1:p.Gly397Arg | |
| ENST00000692620.1:c.67G>A | ENSP00000509311.1:p.Gly23Arg | |
| ENST00000402219.8:c.1300G>A MANE Select | ENSP00000384675.2:p.Gly434Arg | |
| ENST00000395038.6:c.1300G>A | ENSP00000378479.2:p.Gly434Arg | |
| ENST00000402219.6:c.1300G>A | ENSP00000384675.2:p.Gly434Arg | |
| ENST00000426016.5:c.1300G>A | ENSP00000387784.1:p.Gly434Arg | |
| ENST00000472480.1:n.144G>A | ||
| NM_005633.3:c.1300G>A , LRG_754t1:c.1300G>A | NP_005624.2:p.Gly434Arg | |
| XM_005264515.3:c.1300G>A | XP_005264572.1:p.Gly434Arg | |
| XM_011533060.1:c.1393G>A | XP_011531362.1:p.Gly465Arg | |
| XM_011533061.1:c.1393G>A | XP_011531363.1:p.Gly465Arg | |
| XM_011533062.1:c.1279G>A | XP_011531364.1:p.Gly427Arg | |
| XM_011533063.1:c.1276G>A | XP_011531365.1:p.Gly426Arg | |
| XM_011533064.1:c.1129G>A | XP_011531366.1:p.Gly377Arg | |
| XM_011533065.1:c.1393G>A | XP_011531367.1:p.Gly465Arg | |
| XM_011533066.1:c.235G>A | XP_011531368.1:p.Gly79Arg | |
| XM_005264515.4:c.1300G>A | XP_005264572.1:p.Gly434Arg | |
| XM_011533062.2:c.1279G>A | XP_011531364.1:p.Gly427Arg | |
| XM_011533064.2:c.1129G>A | XP_011531366.1:p.Gly377Arg | |
| NM_001382394.1:c.1279G>A | NP_001369323.1:p.Gly427Arg | |
| NM_001382395.1:c.1300G>A | NP_001369324.1:p.Gly434Arg | |
| NM_005633.4:c.1300G>A MANE Select | NP_005624.2:p.Gly434Arg |