Linked Data
ClinVar Variation Id:
241570
ClinVar RCV Id:
RCV000228882
RCV000255635
RCV000454231
RCV001175093
RCV002282082
RCV002500815
RCV003485568
RCV004532964
dbSNP Id:
rs878855122
gnomAD v2:
16-23649420-C-A
gnomAD v3:
16-23638099-C-A
gnomAD v4:
16-23638099-C-A
PubMed:
PMID:26023681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23638099C>A , CM000678.2:g.23638099C>A | GRCh38 |
| NC_000016.9:g.23649420C>A , CM000678.1:g.23649420C>A | GRCh37 |
| NC_000016.8:g.23556921C>A | NCBI36 |
| NG_007406.1:g.8259G>T , LRG_308:g.8259G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.85G>T | ENSP00000460666.3:p.Glu29Ter | |
| ENST00000565038.2:c.79G>T | ENSP00000459882.2:p.Glu27Ter | |
| ENST00000566069.6:c.79G>T | ENSP00000459237.2:p.Glu27Ter | |
| ENST00000697377.2:c.85G>T | ENSP00000513286.2:p.Glu29Ter | |
| ENST00000697379.2:c.85G>T | ENSP00000513287.2:p.Glu29Ter | |
| ENST00000561514.2:c.-807G>T | ENSP00000460666.2:n.-807G>T | |
| ENST00000697374.1:c.-807G>T | ENSP00000513284.1:n.-807G>T | |
| ENST00000697375.1:n.1426G>T | ||
| ENST00000697376.1:c.-843G>T | ENSP00000513285.1:n.-843G>T | |
| ENST00000697377.1:c.-807G>T | ENSP00000513286.1:n.-807G>T | |
| ENST00000697378.1:n.599G>T | ||
| ENST00000697379.1:c.-807G>T | ENSP00000513287.1:n.-807G>T | |
| ENST00000697382.1:c.-807G>T | ENSP00000513288.1:n.-807G>T | |
| ENST00000697383.1:c.48+3011G>T | ENSP00000513289.1:n.48+3011G>T | |
| ENST00000697384.1:n.233G>T | ||
| ENST00000261584.9:c.79G>T MANE Select | ENSP00000261584.4:p.Glu27Ter | |
| ENST00000261584.8:c.79G>T | ENSP00000261584.4:p.Glu27Ter | |
| ENST00000561514.1:c.85G>T | ENSP00000460666.1:p.Glu29Ter | |
| ENST00000567003.1:n.357G>T | ||
| ENST00000568219.5:c.-807G>T | ENSP00000454703.2:n.-807G>T | |
| NM_024675.3:c.79G>T , LRG_308t1:c.79G>T | NP_078951.2:p.Glu27Ter | |
| XM_011545946.1:c.85G>T | XP_011544248.1:p.Glu29Ter | |
| XM_011545947.1:c.85G>T | XP_011544249.1:p.Glu29Ter | |
| XM_011545948.1:c.-807G>T | XP_011544250.1:n.-807G>T | |
| XR_950851.1:n.875G>T | ||
| XM_011545946.2:c.85G>T | XP_011544248.1:p.Glu29Ter | |
| XM_011545947.2:c.85G>T | XP_011544249.1:p.Glu29Ter | |
| XM_011545948.2:c.-807G>T | XP_011544250.1:n.-807G>T | |
| XM_017023671.1:c.85G>T | XP_016879160.1:p.Glu29Ter | |
| XM_017023672.2:c.79G>T | XP_016879161.1:p.Glu27Ter | |
| XM_017023673.2:c.79G>T | XP_016879162.1:p.Glu27Ter | |
| NM_024675.4:c.79G>T MANE Select | NP_078951.2:p.Glu27Ter |