Linked Data
ClinVar Variation Id:
126711
ClinVar RCV Id:
RCV000114591
RCV000116096
RCV000144703
RCV000212822
RCV000588093
RCV001171469
RCV001535480
RCV004528792
RCV003492443
RCV003389455
dbSNP Id:
rs180177132
ExAC:
16:23632683 C / T
gnomAD v2:
16-23632683-C-T
gnomAD v3:
16-23621362-C-T
gnomAD v4:
16-23621362-C-T
ERepo:
CA251004/MONDO:0016419/020
PubMed:
PMID:17200668
PMID:18302019
PMID:19264984
PMID:21182766
PMID:21285249
PMID:21409391
PMID:22241545
PMID:23448497
PMID:23471749
PMID:23787919
PMID:23891399
PMID:24206657
PMID:24415441
PMID:25099575
PMID:25225577
PMID:25356972
PMID:25575445
PMID:26283626
PMID:26315354
PMID:26534844
PMID:26681312
PMID:26845104
PMID:27433846
PMID:27595995
PMID:28158555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23621362C>T , CM000678.2:g.23621362C>T | GRCh38 |
| NC_000016.9:g.23632683C>T , CM000678.1:g.23632683C>T | GRCh37 |
| NC_000016.8:g.23540184C>T | NCBI36 |
| NG_007406.1:g.24996G>A , LRG_308:g.24996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3119G>A | ENSP00000460666.3:p.Trp1040Ter | |
| ENST00000565038.2:c.*594G>A | ENSP00000459882.2:n.*594G>A | |
| ENST00000566069.6:c.3113G>A | ENSP00000459237.2:p.Trp1038Ter | |
| ENST00000697377.2:c.2957G>A | ENSP00000513286.2:p.Trp986Ter | |
| ENST00000697379.2:c.3119G>A | ENSP00000513287.2:p.Trp1040Ter | |
| ENST00000561514.2:c.2228G>A | ENSP00000460666.2:p.Trp743Ter | |
| ENST00000697374.1:c.2228G>A | ENSP00000513284.1:p.Trp743Ter | |
| ENST00000697375.1:n.4460G>A | ||
| ENST00000697376.1:c.2228G>A | ENSP00000513285.1:p.Trp743Ter | |
| ENST00000697377.1:c.2066G>A | ENSP00000513286.1:p.Trp689Ter | |
| ENST00000697378.1:n.3633G>A | ||
| ENST00000697379.1:c.2228G>A | ENSP00000513287.1:p.Trp743Ter | |
| ENST00000697380.1:n.2405G>A | ||
| ENST00000697381.1:n.1808G>A | ||
| ENST00000697382.1:c.2228G>A | ENSP00000513288.1:p.Trp743Ter | |
| ENST00000697383.1:c.647G>A | ENSP00000513289.1:p.Trp216Ter | |
| ENST00000261584.9:c.3113G>A MANE Select | ENSP00000261584.4:p.Trp1038Ter | |
| ENST00000261584.8:c.3113G>A | ENSP00000261584.4:p.Trp1038Ter | |
| ENST00000566069.5:c.28G>A | ||
| ENST00000568219.5:c.2228G>A | ENSP00000454703.2:p.Trp743Ter | |
| NM_024675.3:c.3113G>A , LRG_308t1:c.3113G>A | NP_078951.2:p.Trp1038Ter | |
| XM_011545946.1:c.3119G>A | XP_011544248.1:p.Trp1040Ter | |
| XM_011545947.1:c.3119G>A | XP_011544249.1:p.Trp1040Ter | |
| XM_011545948.1:c.2228G>A | XP_011544250.1:p.Trp743Ter | |
| XR_950851.1:n.3909G>A | ||
| XM_011545946.2:c.3119G>A | XP_011544248.1:p.Trp1040Ter | |
| XM_011545947.2:c.3119G>A | XP_011544249.1:p.Trp1040Ter | |
| XM_011545948.2:c.2228G>A | XP_011544250.1:p.Trp743Ter | |
| XM_017023671.1:c.3119G>A | XP_016879160.1:p.Trp1040Ter | |
| XM_017023672.2:c.3113G>A | XP_016879161.1:p.Trp1038Ter | |
| XM_017023673.2:c.3113G>A | XP_016879162.1:p.Trp1038Ter | |
| NM_024675.4:c.3113G>A MANE Select | NP_078951.2:p.Trp1038Ter |