Linked Data
ClinVar Variation Id:
372718
ClinVar RCV Id:
RCV002328900
dbSNP Id:
rs1057517941
gnomAD v3:
15-38299386-C-T
gnomAD v4:
15-38299386-C-T
PubMed:
PMID:19366998
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299386C>T , CM000677.2:g.38299386C>T | GRCh38 |
| NC_000015.9:g.38591587C>T , CM000677.1:g.38591587C>T | GRCh37 |
| NC_000015.8:g.36378879C>T | NCBI36 |
| NG_008980.1:g.51536C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.46C>T MANE Select | ENSP00000299084.4:p.Arg16Ter | |
| ENST00000299084.8:c.46C>T | ENSP00000299084.4:p.Arg16Ter | |
| ENST00000561205.1:n.384C>T | ||
| ENST00000561317.1:c.-18C>T | ENSP00000453680.1:n.-18C>T | |
| NM_152594.2:c.46C>T | NP_689807.1:p.Arg16Ter | |
| XM_005254202.2:c.82C>T | XP_005254259.1:p.Arg28Ter | |
| XM_005254203.3:c.-15-22855C>T | XP_005254260.1:n.-15-22855C>T | |
| XM_011521288.1:c.-18C>T | XP_011519590.1:n.-18C>T | |
| XM_011521289.1:c.-18C>T | XP_011519591.1:n.-18C>T | |
| XM_011521290.1:c.-18C>T | XP_011519592.1:n.-18C>T | |
| XM_005254202.3:c.82C>T | XP_005254259.1:p.Arg28Ter | |
| XM_011521289.3:c.-18C>T | XP_011519591.1:n.-18C>T | |
| NM_152594.3:c.46C>T MANE Select | NP_689807.1:p.Arg16Ter |