Linked Data
ClinVar Variation Id:
184146
ClinVar RCV Id:
RCV000163312
RCV000226413
RCV000454468
RCV001095934
RCV001083551
RCV001269363
RCV003153438
dbSNP Id:
rs200375156
ExAC:
1:161332203 A / T
gnomAD v2:
1-161332203-A-T
gnomAD v3:
1-161362413-A-T
gnomAD v4:
1-161362413-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161362413A>T , CM000663.2:g.161362413A>T | GRCh38 |
| NC_000001.10:g.161332203A>T , CM000663.1:g.161332203A>T | GRCh37 |
| NC_000001.9:g.159598827A>T | NCBI36 |
| NG_012767.1:g.53038A>T , LRG_317:g.53038A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*491A>T | ENSP00000482902.2:n.*491A>T | |
| ENST00000367975.7:c.490A>T MANE Select | ENSP00000356953.3:p.Met164Leu | |
| ENST00000342751.8:c.326A>T | ENSP00000356952.3:p.Tyr109Phe | |
| ENST00000367975.6:c.490A>T | ENSP00000356953.2:p.Met164Leu | |
| ENST00000392169.6:c.331A>T | ENSP00000376009.2:p.Met111Leu | |
| ENST00000432287.6:c.388A>T | ENSP00000390558.2:p.Met130Leu | |
| ENST00000470743.4:c.588A>T | ||
| ENST00000504963.5:c.*313A>T | ENSP00000423929.1:n.*313A>T | |
| ENST00000513009.5:c.224A>T | ENSP00000423260.1:p.Tyr75Phe | |
| NM_001035511.1:c.326A>T | NP_001030588.1:p.Tyr109Phe | |
| NM_001035512.1:c.388A>T | NP_001030589.1:p.Met130Leu | |
| NM_001035513.1:c.331A>T | NP_001030590.1:p.Met111Leu | |
| NM_001278172.1:c.224A>T | NP_001265101.1:p.Tyr75Phe | |
| NM_003001.3:c.490A>T , LRG_317t1:c.490A>T | NP_002992.1:p.Met164Leu | |
| NR_103459.1:n.547A>T | ||
| NM_001035511.2:c.326A>T | NP_001030588.1:p.Tyr109Phe | |
| NM_001035512.2:c.388A>T | NP_001030589.1:p.Met130Leu | |
| NM_001035513.2:c.331A>T | NP_001030590.1:p.Met111Leu | |
| NM_001278172.2:c.224A>T | NP_001265101.1:p.Tyr75Phe | |
| NM_003001.5:c.490A>T MANE Select | NP_002992.1:p.Met164Leu | |
| NR_103459.2:n.542A>T |