Linked Data
ClinVar Variation Id:
351133
ClinVar RCV Id:
RCV000878495
dbSNP Id:
rs139589527
ExAC:
5:138658499 A / C
gnomAD v2:
5-138658499-A-C
gnomAD v3:
5-139322810-A-C
gnomAD v4:
5-139322810-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139322810A>C , CM000667.2:g.139322810A>C | GRCh38 |
| NC_000005.9:g.138658499A>C , CM000667.1:g.138658499A>C | GRCh37 |
| NC_000005.8:g.138686398A>C | NCBI36 |
| NG_012846.1:g.53708A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394805.8:c.1991A>C MANE Select | ENSP00000378284.3:p.Glu664Ala | |
| ENST00000618441.5:c.1991A>C | ENSP00000482895.1:p.Glu664Ala | |
| ENST00000361059.7:c.1991A>C | ENSP00000354346.4:p.Glu664Ala | |
| ENST00000394800.6:c.1991A>C | ENSP00000378279.2:p.Glu664Ala | |
| ENST00000394805.7:c.1991A>C | ENSP00000378284.3:p.Glu664Ala | |
| ENST00000502422.5:n.1300A>C | ||
| ENST00000502499.5:c.977A>C | ENSP00000426030.1:p.Glu326Ala | |
| ENST00000502929.5:c.1991A>C | ENSP00000422319.1:p.Glu664Ala | |
| ENST00000503811.5:c.1127A>C | ENSP00000423587.1:p.Glu376Ala | |
| ENST00000504203.5:c.977A>C | ENSP00000421218.1:p.Glu326Ala | |
| ENST00000504643.5:n.2422A>C | ||
| ENST00000505625.5:n.5711A>C | ||
| ENST00000509990.5:c.1991A>C | ENSP00000423533.1:p.Glu664Ala | |
| ENST00000510056.5:c.1991A>C | ENSP00000426743.1:p.Glu664Ala | |
| ENST00000512040.1:n.65A>C | ||
| ENST00000618441.4:c.1991A>C | ENSP00000482895.1:p.Glu664Ala | |
| ENST00000620916.2:c.155A>C | ENSP00000480093.1:p.Glu52Ala | |
| NM_001194954.1:c.1991A>C | NP_001181883.1:p.Glu664Ala | |
| NM_001194955.1:c.1991A>C | NP_001181884.1:p.Glu664Ala | |
| NM_001194956.1:c.1127A>C | NP_001181885.1:p.Glu376Ala | |
| NM_001282278.1:c.977A>C | NP_001269207.1:p.Glu326Ala | |
| NM_018834.5:c.1991A>C | NP_061322.2:p.Glu664Ala | |
| NM_199189.2:c.1991A>C | NP_954659.1:p.Glu664Ala | |
| NM_018834.6:c.1991A>C MANE Select | NP_061322.2:p.Glu664Ala | |
| NM_001194954.2:c.1991A>C | NP_001181883.1:p.Glu664Ala | |
| NM_001194955.2:c.1991A>C | NP_001181884.1:p.Glu664Ala | |
| NM_001194956.2:c.1127A>C | NP_001181885.1:p.Glu376Ala | |
| NM_001282278.2:c.977A>C | NP_001269207.1:p.Glu326Ala | |
| NM_199189.3:c.1991A>C | NP_954659.1:p.Glu664Ala | |
| NM_001400441.1:c.1991A>C | NP_001387370.1:p.Glu664Ala | |
| NM_001400442.1:c.1991A>C | NP_001387371.1:p.Glu664Ala | |
| NM_001400443.1:c.1991A>C | NP_001387372.1:p.Glu664Ala | |
| NM_001400444.1:c.1991A>C | NP_001387373.1:p.Glu664Ala | |
| NM_001400445.1:c.1991A>C | NP_001387374.1:p.Glu664Ala | |
| NM_001400447.1:c.1991A>C | NP_001387376.1:p.Glu664Ala | |
| NM_001400448.1:c.1991A>C | NP_001387377.1:p.Glu664Ala | |
| NM_001400450.1:c.1991A>C | NP_001387379.1:p.Glu664Ala | |
| NM_001400451.1:c.1991A>C | NP_001387380.1:p.Glu664Ala | |
| NM_001400452.1:c.1991A>C | NP_001387381.1:p.Glu664Ala | |
| NM_001400453.1:c.1991A>C | NP_001387382.1:p.Glu664Ala | |
| NM_001400454.1:c.1991A>C | NP_001387383.1:p.Glu664Ala | |
| NM_001400455.1:c.1991A>C | NP_001387384.1:p.Glu664Ala | |
| NM_001400456.1:c.1991A>C | NP_001387385.1:p.Glu664Ala | |
| NM_001400457.1:c.1991A>C | NP_001387386.1:p.Glu664Ala | |
| NM_001400458.1:c.1991A>C | NP_001387387.1:p.Glu664Ala | |
| NM_001400459.1:c.1130A>C | NP_001387388.1:p.Glu377Ala | |
| NM_001400460.1:c.977A>C | NP_001387389.1:p.Glu326Ala | |
| NM_001400461.1:c.1091A>C | NP_001387390.1:p.Glu364Ala | |
| NM_001400462.1:c.977A>C | NP_001387391.1:p.Glu326Ala | |
| NM_001400463.1:c.977A>C | NP_001387392.1:p.Glu326Ala | |
| NM_001400464.1:c.977A>C | NP_001387393.1:p.Glu326Ala | |
| NM_001400465.1:c.977A>C | NP_001387394.1:p.Glu326Ala | |
| NM_001400466.1:c.977A>C | NP_001387395.1:p.Glu326Ala | |
| NM_001400467.1:c.977A>C | NP_001387396.1:p.Glu326Ala |