Linked Data
ClinVar Variation Id:
11220
ClinVar RCV Id:
RCV000011971
dbSNP Id:
rs128625230
PubMed:
PMID:1513469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31875331G>A , CM000685.2:g.31875331G>A | GRCh38 |
| NC_000023.10:g.31893448G>A , CM000685.1:g.31893448G>A | GRCh37 |
| NC_000023.9:g.31803369G>A | NCBI36 |
| NG_012232.1:g.1469279C>T , LRG_199:g.1469279C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358062.7:c.1801C>T | ENSP00000350765.3:p.Gln601Ter | |
| ENST00000682238.1:c.-426C>T | ENSP00000508124.1:n.-426C>T | |
| ENST00000683117.1:n.616C>T | ||
| ENST00000683450.1:n.538C>T | ||
| ENST00000683851.1:n.616C>T | ||
| ENST00000683957.1:n.447C>T | ||
| ENST00000684130.1:c.-426C>T | ENSP00000508037.1:n.-426C>T | |
| ENST00000357033.9:c.6955C>T MANE Select | ENSP00000354923.3:p.Gln2319Ter | |
| ENST00000619831.5:c.2923C>T | ENSP00000479270.2:p.Gln975Ter | |
| ENST00000620040.5:c.-426C>T | ENSP00000478150.2:n.-426C>T | |
| ENST00000680961.1:c.-426C>T | ENSP00000506386.1:n.-426C>T | |
| ENST00000681646.1:n.616C>T | ||
| ENST00000357033.8:c.6955C>T | ENSP00000354923.3:p.Gln2319Ter | |
| ENST00000358062.6:c.43C>T | ENSP00000350765.2:p.Gln15Ter | |
| ENST00000359836.5:c.-426C>T | ENSP00000352894.1:n.-426C>T | |
| ENST00000378677.6:c.6943C>T | ENSP00000367948.2:p.Gln2315Ter | |
| ENST00000378707.7:c.-426C>T | ENSP00000367979.3:n.-426C>T | |
| ENST00000474231.5:c.-426C>T | ENSP00000417123.1:n.-426C>T | |
| ENST00000541735.5:c.-426C>T | ENSP00000444119.1:n.-426C>T | |
| ENST00000619831.4:c.6940C>T | ENSP00000479270.1:p.Gln2314Ter | |
| ENST00000620040.4:c.6952C>T | ENSP00000478150.1:p.Gln2318Ter | |
| NM_000109.3:c.6931C>T | NP_000100.2:p.Gln2311Ter | |
| NM_004006.2:c.6955C>T , LRG_199t1:c.6955C>T | NP_003997.1:p.Gln2319Ter | |
| NM_004009.3:c.6943C>T | NP_004000.1:p.Gln2315Ter | |
| NM_004010.3:c.6586C>T | NP_004001.1:p.Gln2196Ter | |
| NM_004011.3:c.2932C>T | NP_004002.2:p.Gln978Ter | |
| NM_004012.3:c.2923C>T | NP_004003.1:p.Gln975Ter | |
| NM_004013.2:c.-426C>T | NP_004004.1:n.-426C>T | |
| NM_004020.3:c.-426C>T | NP_004011.2:n.-426C>T | |
| NM_004021.2:c.-426C>T | NP_004012.1:n.-426C>T | |
| NM_004022.2:c.-426C>T | NP_004013.1:n.-426C>T | |
| NM_004023.2:c.-426C>T | NP_004014.1:n.-426C>T | |
| XM_006724468.2:c.6955C>T | XP_006724531.1:p.Gln2319Ter | |
| XM_006724469.2:c.6931C>T | XP_006724532.1:p.Gln2311Ter | |
| XM_006724470.2:c.6955C>T | XP_006724533.1:p.Gln2319Ter | |
| XM_006724471.2:c.6955C>T | XP_006724534.1:p.Gln2319Ter | |
| XM_006724472.2:c.6826C>T | XP_006724535.1:p.Gln2276Ter | |
| XM_006724473.2:c.6817C>T | XP_006724536.1:p.Gln2273Ter | |
| XM_006724474.2:c.6955C>T | XP_006724537.1:p.Gln2319Ter | |
| XM_006724475.2:c.6955C>T | XP_006724538.1:p.Gln2319Ter | |
| XM_011545467.1:c.6832C>T | XP_011543769.1:p.Gln2278Ter | |
| XM_011545468.1:c.6955C>T | XP_011543770.1:p.Gln2319Ter | |
| XM_006724469.3:c.6931C>T | XP_006724532.1:p.Gln2311Ter | |
| XM_006724470.3:c.6955C>T | XP_006724533.1:p.Gln2319Ter | |
| XM_006724474.3:c.6955C>T | XP_006724537.1:p.Gln2319Ter | |
| XM_011545468.2:c.6955C>T | XP_011543770.1:p.Gln2319Ter | |
| XM_017029328.1:c.6955C>T | XP_016884817.1:p.Gln2319Ter | |
| XM_017029331.1:c.1129C>T | XP_016884820.1:p.Gln377Ter | |
| NM_000109.4:c.6931C>T | NP_000100.3:p.Gln2311Ter | |
| NM_004006.3:c.6955C>T MANE Select | NP_003997.2:p.Gln2319Ter | |
| NM_004011.4:c.2932C>T | NP_004002.3:p.Gln978Ter | |
| NM_004012.4:c.2923C>T | NP_004003.2:p.Gln975Ter | |
| NM_004021.3:c.-426C>T | NP_004012.2:n.-426C>T | |
| NM_004023.3:c.-426C>T | NP_004014.2:n.-426C>T | |
| NM_004013.3:c.-426C>T | NP_004004.2:n.-426C>T | |
| NM_004020.4:c.-426C>T | NP_004011.3:n.-426C>T | |
| NM_004022.3:c.-426C>T | NP_004013.2:n.-426C>T |