Linked Data
ClinVar Variation Id:
128144
ClinVar RCV Id:
RCV000116108
RCV000212831
RCV000587765
RCV000200012
RCV003493446
RCV000763376
RCV004528809
dbSNP Id:
rs118203998
gnomAD v2:
16-23614792-G-T
gnomAD v4:
16-23603471-G-T
PubMed:
PMID:17200671
PMID:19264984
PMID:19584259
PMID:19609323
PMID:20927582
PMID:21365267
PMID:25099575
PMID:26296701
PMID:26315354
PMID:26641009
PMID:26681312
ERepo:
CA288488/MONDO:0016419/020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603471G>T , CM000678.2:g.23603471G>T | GRCh38 |
| NC_000016.9:g.23614792G>T , CM000678.1:g.23614792G>T | GRCh37 |
| NC_000016.8:g.23522293G>T | NCBI36 |
| NG_007406.1:g.42887C>A , LRG_308:g.42887C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3555C>A | ENSP00000460666.3:p.Tyr1185Ter | |
| ENST00000565038.2:c.*1034C>A | ENSP00000459882.2:n.*1034C>A | |
| ENST00000566069.6:c.*184C>A | ENSP00000459237.2:n.*184C>A | |
| ENST00000697377.2:c.3393C>A | ENSP00000513286.2:p.Tyr1131Ter | |
| ENST00000697379.2:c.3555C>A | ENSP00000513287.2:p.Tyr1185Ter | |
| ENST00000561514.2:c.2664C>A | ENSP00000460666.2:p.Tyr888Ter | |
| ENST00000697374.1:c.2664C>A | ENSP00000513284.1:p.Tyr888Ter | |
| ENST00000697375.1:n.4896C>A | ||
| ENST00000697376.1:c.*184C>A | ENSP00000513285.1:n.*184C>A | |
| ENST00000697377.1:c.2502C>A | ENSP00000513286.1:p.Tyr834Ter | |
| ENST00000697378.1:n.4069C>A | ||
| ENST00000697379.1:c.2664C>A | ENSP00000513287.1:p.Tyr888Ter | |
| ENST00000697380.1:n.2753C>A | ||
| ENST00000697381.1:n.2244C>A | ||
| ENST00000697382.1:c.*326C>A | ENSP00000513288.1:n.*326C>A | |
| ENST00000697383.1:c.1083C>A | ENSP00000513289.1:p.Tyr361Ter | |
| ENST00000261584.9:c.3549C>A MANE Select | ENSP00000261584.4:p.Tyr1183Ter | |
| ENST00000261584.8:c.3549C>A | ENSP00000261584.4:p.Tyr1183Ter | |
| ENST00000566069.5:c.315C>A | ||
| ENST00000568219.5:c.2664C>A | ENSP00000454703.2:p.Tyr888Ter | |
| NM_024675.3:c.3549C>A , LRG_308t1:c.3549C>A | NP_078951.2:p.Tyr1183Ter | |
| XM_011545946.1:c.3555C>A | XP_011544248.1:p.Tyr1185Ter | |
| XM_011545947.1:c.*184C>A | XP_011544249.1:n.*184C>A | |
| XM_011545948.1:c.2664C>A | XP_011544250.1:p.Tyr888Ter | |
| XR_950851.1:n.4257C>A | ||
| XM_011545946.2:c.3555C>A | XP_011544248.1:p.Tyr1185Ter | |
| XM_011545947.2:c.*184C>A | XP_011544249.1:n.*184C>A | |
| XM_011545948.2:c.2664C>A | XP_011544250.1:p.Tyr888Ter | |
| XM_017023671.1:c.3318C>A | XP_016879160.1:p.Tyr1106Ter | |
| XM_017023672.2:c.3312C>A | XP_016879161.1:p.Tyr1104Ter | |
| XM_017023673.2:c.*184C>A | XP_016879162.1:n.*184C>A | |
| NM_024675.4:c.3549C>A MANE Select | NP_078951.2:p.Tyr1183Ter |