Linked Data
ClinVar Variation Id:
1620587
ClinVar RCV Id:
RCV002091616
dbSNP Id:
rs1831138394
MyVariant Identifiers:
chr9:g.133573600T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130698213T>C , CM000671.2:g.130698213T>C | GRCh38 |
| NC_000009.11:g.133573600T>C , CM000671.1:g.133573600T>C | GRCh37 |
| NC_000009.10:g.132563421T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430138.7:n.76T>C | ||
| ENST00000491115.7:c.225-1116T>C | ENSP00000509903.1:n.225-1116T>C | |
| ENST00000495699.3:c.322T>C | ENSP00000418463.3:p.Leu108= | |
| ENST00000546165.6:c.322T>C | ENSP00000444917.1:p.Leu108= | |
| ENST00000685137.1:c.*107T>C | ENSP00000510555.1:n.*107T>C | |
| ENST00000685277.1:c.283+586T>C | ENSP00000508897.1:n.283+586T>C | |
| ENST00000686102.1:n.892T>C | ||
| ENST00000686106.1:n.333T>C | ||
| ENST00000687051.1:c.322T>C | ENSP00000509862.1:p.Leu108= | |
| ENST00000687420.1:c.*107T>C | ENSP00000510661.1:n.*107T>C | |
| ENST00000688258.1:c.322T>C | ENSP00000509176.1:p.Leu108= | |
| ENST00000688350.1:n.333T>C | ||
| ENST00000688364.1:n.149+586T>C | ||
| ENST00000688967.1:c.*641T>C | ENSP00000509217.1:n.*641T>C | |
| ENST00000689662.1:n.735T>C | ||
| ENST00000689890.1:c.322T>C | ENSP00000508702.1:p.Leu108= | |
| ENST00000691104.1:n.343T>C | ||
| ENST00000691284.1:c.322T>C | ENSP00000508620.1:p.Leu108= | |
| ENST00000691425.1:n.868T>C | ||
| ENST00000691926.1:c.270+586T>C | ENSP00000510677.1:n.270+586T>C | |
| ENST00000691956.1:n.274T>C | ||
| ENST00000692794.1:c.*107T>C | ENSP00000510147.1:n.*107T>C | |
| ENST00000693011.1:c.*107T>C | ENSP00000508836.1:n.*107T>C | |
| ENST00000693435.1:c.*641T>C | ENSP00000509661.1:n.*641T>C | |
| ENST00000693610.1:c.*107T>C | ENSP00000509388.1:n.*107T>C | |
| ENST00000372358.10:c.322T>C MANE Select | ENSP00000361433.5:p.Leu108= | |
| ENST00000372350.7:c.322T>C | ENSP00000361425.2:p.Leu108= | |
| ENST00000372351.7:c.270+586T>C | ENSP00000361426.3:n.270+586T>C | |
| ENST00000372352.7:c.322T>C | ENSP00000361427.3:p.Leu108= | |
| ENST00000372358.9:c.322T>C | ENSP00000361433.5:p.Leu108= | |
| ENST00000430138.6:n.886T>C | ||
| ENST00000463488.1:n.308T>C | ||
| ENST00000490641.5:n.237-1116T>C | ||
| ENST00000491115.6:n.296-1116T>C | ||
| ENST00000495699.2:c.308T>C | ||
| ENST00000546165.5:c.322T>C | ENSP00000444917.1:p.Leu108= | |
| NM_001282708.1:c.322T>C | NP_001269637.1:p.Leu108= | |
| NM_001282709.1:c.270+586T>C | NP_001269638.1:n.270+586T>C | |
| NM_014285.6:c.322T>C | NP_055100.2:p.Leu108= | |
| NR_104230.1:n.354T>C | ||
| XM_005272176.2:c.-15T>C | XP_005272233.1:n.-15T>C | |
| XM_006717022.1:c.322T>C | XP_006717085.1:p.Leu108= | |
| XM_006717023.2:c.-31+586T>C | XP_006717086.1:n.-31+586T>C | |
| XM_006717024.2:c.322T>C | XP_006717087.1:p.Leu108= | |
| XM_017014558.1:c.-15T>C | XP_016870047.1:n.-15T>C | |
| XR_001746262.1:n.334T>C | ||
| NM_014285.7:c.322T>C MANE Select | NP_055100.2:p.Leu108= |