Linked Data
ClinVar Variation Id:
374909
ClinVar RCV Id:
RCV000415519
dbSNP Id:
rs1057519301
PubMed:
PMID:27005418
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.8731940G>A , CM000664.2:g.8731940G>A | GRCh38 |
| NC_000002.11:g.8872070G>A , CM000664.1:g.8872070G>A | GRCh37 |
| NC_000002.10:g.8789521G>A | NCBI36 |
| NG_053168.1:g.110700C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685097.1:c.3799C>T | ENSP00000510510.1:p.Gln1267Ter | |
| ENST00000686383.1:n.3981C>T | ||
| ENST00000686906.1:c.3893C>T | ENSP00000508907.1:p.Pro1298Leu | |
| ENST00000687894.1:c.*1468C>T | ENSP00000509577.1:n.*1468C>T | |
| ENST00000687912.1:c.3601C>T | ENSP00000508455.1:p.Gln1201Ter | |
| ENST00000689369.1:c.3882+1504C>T | ENSP00000509856.1:n.3882+1504C>T | |
| ENST00000689852.1:c.3915+1504C>T | ENSP00000510537.1:n.3915+1504C>T | |
| ENST00000691030.1:c.4075C>T | ENSP00000510148.1:p.Gln1359Ter | |
| ENST00000693394.1:c.3882+1504C>T | ENSP00000509014.1:n.3882+1504C>T | |
| ENST00000693432.1:c.4053+1504C>T | ENSP00000510486.1:n.4053+1504C>T | |
| ENST00000693597.1:n.861+1504C>T | ||
| ENST00000256707.8:c.4096C>T MANE Select | ENSP00000256707.4:p.Gln1366Ter | |
| ENST00000569008.2:c.3882+1504C>T | ENSP00000491461.1:n.3882+1504C>T | |
| ENST00000256707.7:c.4096C>T | ENSP00000256707.3:p.Gln1366Ter | |
| ENST00000473731.5:c.4039C>T | ENSP00000418974.1:p.Gln1347Ter | |
| ENST00000488729.5:c.*3985C>T | ENSP00000417390.1:n.*3985C>T | |
| ENST00000496383.5:c.3123+1504C>T | ENSP00000420364.1:n.3123+1504C>T | |
| NM_020738.2:c.4096C>T | NP_065789.1:p.Gln1366Ter | |
| NM_001348729.1:c.4099C>T | NP_001335658.1:p.Gln1367Ter | |
| NM_001348731.1:c.4042C>T | NP_001335660.1:p.Gln1348Ter | |
| NM_001348732.1:c.4039C>T | NP_001335661.1:p.Gln1347Ter | |
| NM_001348734.1:c.3928C>T | NP_001335663.1:p.Gln1310Ter | |
| NM_001348735.1:c.3925C>T | NP_001335664.1:p.Gln1309Ter | |
| NM_001348736.1:c.3799C>T | NP_001335665.1:p.Gln1267Ter | |
| NM_001348738.1:c.3996+1504C>T | NP_001335667.1:n.3996+1504C>T | |
| NM_001348739.1:c.3885+1504C>T | NP_001335668.1:n.3885+1504C>T | |
| NM_001348740.1:c.3885+1504C>T | NP_001335669.1:n.3885+1504C>T | |
| NM_001348741.1:c.3882+1504C>T | NP_001335670.1:n.3882+1504C>T | |
| NM_001348742.1:c.3882+1504C>T | NP_001335671.1:n.3882+1504C>T | |
| NM_001348743.1:c.3882+1504C>T | NP_001335672.1:n.3882+1504C>T | |
| NM_020738.3:c.4096C>T | NP_065789.1:p.Gln1366Ter | |
| NR_145964.1:n.4252+1504C>T | ||
| NR_145965.1:n.4078+1504C>T | ||
| NM_001348729.2:c.4099C>T | NP_001335658.1:p.Gln1367Ter | |
| NM_001348731.2:c.4042C>T | NP_001335660.1:p.Gln1348Ter | |
| NM_001348732.2:c.4039C>T | NP_001335661.1:p.Gln1347Ter | |
| NM_001348734.2:c.3928C>T | NP_001335663.1:p.Gln1310Ter | |
| NM_001348735.2:c.3925C>T | NP_001335664.1:p.Gln1309Ter | |
| NM_001348736.2:c.3799C>T | NP_001335665.1:p.Gln1267Ter | |
| NM_001348738.2:c.3996+1504C>T | NP_001335667.1:n.3996+1504C>T | |
| NM_001348739.2:c.3885+1504C>T | NP_001335668.1:n.3885+1504C>T | |
| NM_001348740.2:c.3885+1504C>T | NP_001335669.1:n.3885+1504C>T | |
| NM_001348741.2:c.3882+1504C>T | NP_001335670.1:n.3882+1504C>T | |
| NM_001348742.2:c.3882+1504C>T | NP_001335671.1:n.3882+1504C>T | |
| NM_001348743.2:c.3882+1504C>T | NP_001335672.1:n.3882+1504C>T | |
| NM_020738.4:c.4096C>T MANE Select | NP_065789.1:p.Gln1366Ter | |
| NR_145964.2:n.4226+1504C>T | ||
| NR_145965.2:n.4052+1504C>T |