Linked Data
ClinVar Variation Id:
94681
ClinVar RCV Id:
RCV000201201
dbSNP Id:
rs398123997
PubMed:
PMID:19760747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32342249C>A , CM000685.2:g.32342249C>A | GRCh38 |
| NC_000023.10:g.32360366C>A , CM000685.1:g.32360366C>A | GRCh37 |
| NC_000023.9:g.32270287C>A | NCBI36 |
| NG_012232.1:g.1002361G>T , LRG_199:g.1002361G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.619G>T | ENSP00000350765.3:p.Glu207Ter | |
| ENST00000357033.9:c.5773G>T MANE Select | ENSP00000354923.3:p.Glu1925Ter | |
| ENST00000619831.5:c.1741G>T | ENSP00000479270.2:p.Glu581Ter | |
| ENST00000357033.8:c.5773G>T | ENSP00000354923.3:p.Glu1925Ter | |
| ENST00000378677.6:c.5761G>T | ENSP00000367948.2:p.Glu1921Ter | |
| ENST00000488902.5:n.336-125186G>T | ||
| ENST00000619831.4:c.5761G>T | ENSP00000479270.1:p.Glu1921Ter | |
| ENST00000620040.4:c.5773G>T | ENSP00000478150.1:p.Glu1925Ter | |
| NM_000109.3:c.5749G>T | NP_000100.2:p.Glu1917Ter | |
| NM_004006.2:c.5773G>T , LRG_199t1:c.5773G>T | NP_003997.1:p.Glu1925Ter | |
| NM_004009.3:c.5761G>T | NP_004000.1:p.Glu1921Ter | |
| NM_004010.3:c.5404G>T | NP_004001.1:p.Glu1802Ter | |
| NM_004011.3:c.1750G>T | NP_004002.2:p.Glu584Ter | |
| NM_004012.3:c.1741G>T | NP_004003.1:p.Glu581Ter | |
| XM_006724468.2:c.5773G>T | XP_006724531.1:p.Glu1925Ter | |
| XM_006724469.2:c.5749G>T | XP_006724532.1:p.Glu1917Ter | |
| XM_006724470.2:c.5773G>T | XP_006724533.1:p.Glu1925Ter | |
| XM_006724471.2:c.5773G>T | XP_006724534.1:p.Glu1925Ter | |
| XM_006724472.2:c.5644G>T | XP_006724535.1:p.Glu1882Ter | |
| XM_006724473.2:c.5635G>T | XP_006724536.1:p.Glu1879Ter | |
| XM_006724474.2:c.5773G>T | XP_006724537.1:p.Glu1925Ter | |
| XM_006724475.2:c.5773G>T | XP_006724538.1:p.Glu1925Ter | |
| XM_011545467.1:c.5650G>T | XP_011543769.1:p.Glu1884Ter | |
| XM_011545468.1:c.5773G>T | XP_011543770.1:p.Glu1925Ter | |
| XM_006724469.3:c.5749G>T | XP_006724532.1:p.Glu1917Ter | |
| XM_006724470.3:c.5773G>T | XP_006724533.1:p.Glu1925Ter | |
| XM_006724474.3:c.5773G>T | XP_006724537.1:p.Glu1925Ter | |
| XM_011545468.2:c.5773G>T | XP_011543770.1:p.Glu1925Ter | |
| XM_017029328.1:c.5773G>T | XP_016884817.1:p.Glu1925Ter | |
| XM_017029329.1:c.5773G>T | XP_016884818.1:p.Glu1925Ter | |
| XM_017029330.2:c.5773G>T | XP_016884819.1:p.Glu1925Ter | |
| XM_017029331.1:c.-54G>T | XP_016884820.1:n.-54G>T | |
| NM_000109.4:c.5749G>T | NP_000100.3:p.Glu1917Ter | |
| NM_004006.3:c.5773G>T MANE Select | NP_003997.2:p.Glu1925Ter | |
| NM_004011.4:c.1750G>T | NP_004002.3:p.Glu584Ter | |
| NM_004012.4:c.1741G>T | NP_004003.2:p.Glu581Ter |