Linked Data
ClinVar Variation Id:
38203
ClinVar RCV Id:
RCV000031786
RCV000167398
RCV000160163
RCV000167961
RCV000766653
RCV000735617
RCV001353884
RCV004532463
dbSNP Id:
rs397507417
gnomAD v4:
13-32379815-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379815A>G , CM000675.2:g.32379815A>G | GRCh38 |
| NC_000013.10:g.32953952A>G , CM000675.1:g.32953952A>G | GRCh37 |
| NC_000013.9:g.31851952A>G | NCBI36 |
| NG_012772.3:g.69336A>G , LRG_293:g.69336A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9019A>G | ENSP00000434898.2:p.Arg3007Gly | |
| ENST00000528762.2:c.*386A>G | ENSP00000433168.2:n.*386A>G | |
| ENST00000530893.7:c.8650A>G | ENSP00000499438.2:p.Arg2884Gly | |
| ENST00000665585.2:c.*581A>G | ENSP00000499570.2:n.*581A>G | |
| ENST00000666593.2:c.9019A>G | ENSP00000499256.2:p.Arg3007Gly | |
| ENST00000700202.2:c.8968A>G | ENSP00000514856.2:p.Arg2990Gly | |
| ENST00000700202.1:c.1435A>G | ENSP00000514856.1:p.Arg479Gly | |
| ENST00000700203.1:n.1146A>G | ||
| ENST00000380152.8:c.9019A>G MANE Select | ENSP00000369497.3:p.Arg3007Gly | |
| ENST00000544455.6:c.9019A>G | ENSP00000439902.1:p.Arg3007Gly | |
| ENST00000614259.2:c.9027A>G | ENSP00000506251.1:n.9027A>G | |
| ENST00000665585.1:c.1897A>G | ||
| ENST00000680887.1:c.9019A>G | ENSP00000505508.1:p.Arg3007Gly | |
| ENST00000380152.7:c.9019A>G | ENSP00000369497.3:p.Arg3007Gly | |
| ENST00000544455.5:c.9019A>G | ENSP00000439902.1:p.Arg3007Gly | |
| NM_000059.3:c.9019A>G , LRG_293t1:c.9019A>G | NP_000050.2:p.Arg3007Gly | |
| XM_011535203.1:c.9019A>G | XP_011533505.1:p.Arg3007Gly | |
| XM_011535204.1:c.8923A>G | XP_011533506.1:p.Arg2975Gly | |
| XM_011535205.1:c.*57A>G | XP_011533507.1:n.*57A>G | |
| NM_000059.4:c.9019A>G MANE Select | NP_000050.3:p.Arg3007Gly |