Linked Data
ClinVar Variation Id:
351163
ClinVar RCV Id:
RCV000395404
dbSNP Id:
rs886059997
gnomAD v4:
5-139330324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139330324G>A , CM000667.2:g.139330324G>A | GRCh38 |
| NC_000005.9:g.138666013G>A , CM000667.1:g.138666013G>A | GRCh37 |
| NC_000005.8:g.138693912G>A | NCBI36 |
| NG_012846.1:g.61222G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394805.8:c.*929G>A MANE Select | ENSP00000378284.3:n.*929G>A | |
| ENST00000618441.5:c.*929G>A | ENSP00000482895.1:n.*929G>A | |
| ENST00000361059.7:c.*929G>A | ENSP00000354346.4:n.*929G>A | |
| ENST00000394800.6:c.*929G>A | ENSP00000378279.2:n.*929G>A | |
| ENST00000394805.7:c.*929G>A | ENSP00000378284.3:n.*929G>A | |
| ENST00000502499.5:c.*929G>A | ENSP00000426030.1:n.*929G>A | |
| ENST00000502929.5:c.*929G>A | ENSP00000422319.1:n.*929G>A | |
| ENST00000505625.5:n.7193G>A | ||
| ENST00000618441.4:c.*929G>A | ENSP00000482895.1:n.*929G>A | |
| ENST00000620916.2:c.1781G>A | ENSP00000480093.1:n.1781G>A | |
| NM_001194954.1:c.*929G>A | NP_001181883.1:n.*929G>A | |
| NM_001194955.1:c.*929G>A | NP_001181884.1:n.*929G>A | |
| NM_001194956.1:c.*929G>A | NP_001181885.1:n.*929G>A | |
| NM_001282278.1:c.*929G>A | NP_001269207.1:n.*929G>A | |
| NM_018834.5:c.*929G>A | NP_061322.2:n.*929G>A | |
| NM_199189.2:c.*929G>A | NP_954659.1:n.*929G>A | |
| NM_018834.6:c.*929G>A MANE Select | NP_061322.2:n.*929G>A | |
| NM_001194954.2:c.*929G>A | NP_001181883.1:n.*929G>A | |
| NM_001194955.2:c.*929G>A | NP_001181884.1:n.*929G>A | |
| NM_001194956.2:c.*929G>A | NP_001181885.1:n.*929G>A | |
| NM_001282278.2:c.*929G>A | NP_001269207.1:n.*929G>A | |
| NM_199189.3:c.*929G>A | NP_954659.1:n.*929G>A | |
| NM_001400441.1:c.*929G>A | NP_001387370.1:n.*929G>A | |
| NM_001400442.1:c.*929G>A | NP_001387371.1:n.*929G>A | |
| NM_001400443.1:c.*929G>A | NP_001387372.1:n.*929G>A | |
| NM_001400444.1:c.*929G>A | NP_001387373.1:n.*929G>A | |
| NM_001400445.1:c.*929G>A | NP_001387374.1:n.*929G>A | |
| NM_001400447.1:c.*929G>A | NP_001387376.1:n.*929G>A | |
| NM_001400448.1:c.*929G>A | NP_001387377.1:n.*929G>A | |
| NM_001400450.1:c.*929G>A | NP_001387379.1:n.*929G>A | |
| NM_001400451.1:c.*929G>A | NP_001387380.1:n.*929G>A | |
| NM_001400452.1:c.*929G>A | NP_001387381.1:n.*929G>A | |
| NM_001400453.1:c.*929G>A | NP_001387382.1:n.*929G>A | |
| NM_001400454.1:c.*929G>A | NP_001387383.1:n.*929G>A | |
| NM_001400455.1:c.*929G>A | NP_001387384.1:n.*929G>A | |
| NM_001400456.1:c.*929G>A | NP_001387385.1:n.*929G>A | |
| NM_001400457.1:c.*929G>A | NP_001387386.1:n.*929G>A | |
| NM_001400458.1:c.*929G>A | NP_001387387.1:n.*929G>A | |
| NM_001400459.1:c.*929G>A | NP_001387388.1:n.*929G>A | |
| NM_001400460.1:c.*929G>A | NP_001387389.1:n.*929G>A | |
| NM_001400461.1:c.*929G>A | NP_001387390.1:n.*929G>A | |
| NM_001400462.1:c.*929G>A | NP_001387391.1:n.*929G>A | |
| NM_001400463.1:c.*929G>A | NP_001387392.1:n.*929G>A | |
| NM_001400464.1:c.*929G>A | NP_001387393.1:n.*929G>A | |
| NM_001400465.1:c.*929G>A | NP_001387394.1:n.*929G>A | |
| NM_001400466.1:c.*929G>A | NP_001387395.1:n.*929G>A | |
| NM_001400467.1:c.*929G>A | NP_001387396.1:n.*929G>A |