Linked Data
ClinVar Variation Id:
10527
ClinVar RCV Id:
RCV000011273
dbSNP Id:
rs137852285
PubMed:
PMID:7711737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18901487G>A , CM000685.2:g.18901487G>A | GRCh38 |
| NC_000023.10:g.18919605G>A , CM000685.1:g.18919605G>A | GRCh37 |
| NC_000023.9:g.18829526G>A | NCBI36 |
| NG_016622.1:g.87876C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379942.5:c.3025C>T MANE Select | ENSP00000369274.4:p.Gln1009Ter | |
| ENST00000379942.4:c.3025C>T | ENSP00000369274.4:p.Gln1009Ter | |
| ENST00000469645.5:n.509C>T | ||
| ENST00000473739.5:n.117C>T | ||
| ENST00000486231.2:n.294C>T | ||
| NM_000292.2:c.3025C>T | NP_000283.1:p.Gln1009Ter | |
| XM_005274548.3:c.3025C>T | XP_005274605.1:p.Gln1009Ter | |
| XM_005274550.3:c.3025C>T | XP_005274607.1:p.Gln1009Ter | |
| XM_006724496.2:c.3025C>T | XP_006724559.1:p.Gln1009Ter | |
| XM_006724498.2:c.2479C>T | XP_006724561.1:p.Gln827Ter | |
| XM_011545537.1:c.2926C>T | XP_011543839.1:p.Gln976Ter | |
| XM_011545538.1:c.2008C>T | XP_011543840.1:p.Gln670Ter | |
| XR_950461.1:n.3209C>T | ||
| XM_005274548.5:c.3025C>T | XP_005274605.1:p.Gln1009Ter | |
| XM_005274550.5:c.3025C>T | XP_005274607.1:p.Gln1009Ter | |
| XM_006724496.4:c.3025C>T | XP_006724559.1:p.Gln1009Ter | |
| XM_006724498.4:c.2479C>T | XP_006724561.1:p.Gln827Ter | |
| XM_011545537.3:c.2926C>T | XP_011543839.1:p.Gln976Ter | |
| XM_011545538.3:c.2008C>T | XP_011543840.1:p.Gln670Ter | |
| XM_017029580.2:c.2119C>T | XP_016885069.1:p.Gln707Ter | |
| XR_001755697.2:n.3195C>T | ||
| XR_001755698.2:n.3314C>T | ||
| XR_002958777.1:n.3314C>T | ||
| XR_950461.3:n.3195C>T | ||
| NM_000292.3:c.3025C>T MANE Select | NP_000283.1:p.Gln1009Ter |