Linked Data
ClinVar Variation Id:
426075
dbSNP Id:
rs201956469
ExAC:
14:57088415 C / T
gnomAD v2:
14-57088415-C-T
gnomAD v3:
14-56621697-C-T
gnomAD v4:
14-56621697-C-T
PubMed:
PMID:28318500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.56621697C>T , CM000676.2:g.56621697C>T | GRCh38 |
| NC_000014.8:g.57088415C>T , CM000676.1:g.57088415C>T | GRCh37 |
| NC_000014.7:g.56158168C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261556.11:c.1393C>T MANE Select | ENSP00000261556.6:p.Gln465Ter | |
| ENST00000261556.10:c.1393C>T | ENSP00000261556.6:p.Gln465Ter | |
| ENST00000538838.5:c.1226+2934C>T | ENSP00000441934.1:n.1226+2934C>T | |
| ENST00000539559.6:c.*303C>T | ENSP00000442602.2:n.*303C>T | |
| ENST00000555497.5:c.*700+2934C>T | ENSP00000452065.1:n.*700+2934C>T | |
| ENST00000555905.5:c.440+2934C>T | ||
| ENST00000556422.5:c.758+2934C>T | ENSP00000450988.1:n.758+2934C>T | |
| ENST00000556648.1:n.862+2934C>T | ||
| NM_017799.3:c.1393C>T | NP_060269.3:p.Gln465Ter | |
| XM_005267771.1:c.352C>T | XP_005267828.1:p.Gln118Ter | |
| XM_006720176.1:c.553C>T | XP_006720239.1:p.Gln185Ter | |
| XM_006720178.1:c.352C>T | XP_006720241.1:p.Gln118Ter | |
| XM_011536850.1:c.1226+2934C>T | XP_011535152.1:n.1226+2934C>T | |
| XM_011536851.1:c.1393C>T | XP_011535153.1:p.Gln465Ter | |
| XM_011536852.1:c.1042C>T | XP_011535154.1:p.Gln348Ter | |
| XM_011536853.1:c.925C>T | XP_011535155.1:p.Gln309Ter | |
| XM_011536855.1:c.520C>T | XP_011535157.1:p.Gln174Ter | |
| XM_011536856.1:c.352C>T | XP_011535158.1:p.Gln118Ter | |
| XR_245695.1:n.1350+2934C>T | ||
| XR_943481.1:n.1517C>T | ||
| XM_011536851.2:c.1393C>T | XP_011535153.1:p.Gln465Ter | |
| XM_017021379.2:c.1393C>T | XP_016876868.1:p.Gln465Ter | |
| XM_017021380.1:c.553C>T | XP_016876869.1:p.Gln185Ter | |
| XM_024449636.1:c.352C>T | XP_024305404.1:p.Gln118Ter | |
| XR_001750382.2:n.1516C>T | ||
| XR_001750384.2:n.1587C>T | ||
| XR_001750385.2:n.1610C>T | ||
| XR_001750386.2:n.1681C>T | ||
| XR_001750387.2:n.1349+2934C>T | ||
| XR_245695.2:n.1349+2934C>T | ||
| NM_017799.4:c.1393C>T MANE Select | NP_060269.3:p.Gln465Ter |