Linked Data
ClinVar Variation Id:
11263
ClinVar RCV Id:
RCV000012014
dbSNP Id:
rs128626252
PubMed:
PMID:7951253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31929718G>A , CM000685.2:g.31929718G>A | GRCh38 |
| NC_000023.10:g.31947835G>A , CM000685.1:g.31947835G>A | GRCh37 |
| NC_000023.9:g.31857756G>A | NCBI36 |
| NG_012232.1:g.1414892C>T , LRG_199:g.1414892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.1636C>T | ENSP00000350765.3:p.Gln546Ter | |
| ENST00000682135.1:n.451C>T | ||
| ENST00000682238.1:c.-591C>T | ENSP00000508124.1:n.-591C>T | |
| ENST00000683117.1:n.451C>T | ||
| ENST00000683450.1:n.451C>T | ||
| ENST00000683851.1:n.451C>T | ||
| ENST00000683957.1:n.282C>T | ||
| ENST00000684130.1:c.-591C>T | ENSP00000508037.1:n.-591C>T | |
| ENST00000357033.9:c.6790C>T MANE Select | ENSP00000354923.3:p.Gln2264Ter | |
| ENST00000619831.5:c.2758C>T | ENSP00000479270.2:p.Gln920Ter | |
| ENST00000620040.5:c.-591C>T | ENSP00000478150.2:n.-591C>T | |
| ENST00000680961.1:c.-591C>T | ENSP00000506386.1:n.-591C>T | |
| ENST00000681646.1:n.451C>T | ||
| ENST00000357033.8:c.6790C>T | ENSP00000354923.3:p.Gln2264Ter | |
| ENST00000359836.5:c.-591C>T | ENSP00000352894.1:n.-591C>T | |
| ENST00000378677.6:c.6778C>T | ENSP00000367948.2:p.Gln2260Ter | |
| ENST00000378707.7:c.-591C>T | ENSP00000367979.3:n.-591C>T | |
| ENST00000474231.5:c.-591C>T | ENSP00000417123.1:n.-591C>T | |
| ENST00000541735.5:c.-591C>T | ENSP00000444119.1:n.-591C>T | |
| ENST00000619831.4:c.6775C>T | ENSP00000479270.1:p.Gln2259Ter | |
| ENST00000620040.4:c.6787C>T | ENSP00000478150.1:p.Gln2263Ter | |
| NM_000109.3:c.6766C>T | NP_000100.2:p.Gln2256Ter | |
| NM_004006.2:c.6790C>T , LRG_199t1:c.6790C>T | NP_003997.1:p.Gln2264Ter | |
| NM_004009.3:c.6778C>T | NP_004000.1:p.Gln2260Ter | |
| NM_004010.3:c.6421C>T | NP_004001.1:p.Gln2141Ter | |
| NM_004011.3:c.2767C>T | NP_004002.2:p.Gln923Ter | |
| NM_004012.3:c.2758C>T | NP_004003.1:p.Gln920Ter | |
| NM_004013.2:c.-591C>T | NP_004004.1:n.-591C>T | |
| NM_004020.3:c.-591C>T | NP_004011.2:n.-591C>T | |
| NM_004021.2:c.-591C>T | NP_004012.1:n.-591C>T | |
| NM_004022.2:c.-591C>T | NP_004013.1:n.-591C>T | |
| NM_004023.2:c.-591C>T | NP_004014.1:n.-591C>T | |
| XM_006724468.2:c.6790C>T | XP_006724531.1:p.Gln2264Ter | |
| XM_006724469.2:c.6766C>T | XP_006724532.1:p.Gln2256Ter | |
| XM_006724470.2:c.6790C>T | XP_006724533.1:p.Gln2264Ter | |
| XM_006724471.2:c.6790C>T | XP_006724534.1:p.Gln2264Ter | |
| XM_006724472.2:c.6661C>T | XP_006724535.1:p.Gln2221Ter | |
| XM_006724473.2:c.6652C>T | XP_006724536.1:p.Gln2218Ter | |
| XM_006724474.2:c.6790C>T | XP_006724537.1:p.Gln2264Ter | |
| XM_006724475.2:c.6790C>T | XP_006724538.1:p.Gln2264Ter | |
| XM_011545467.1:c.6667C>T | XP_011543769.1:p.Gln2223Ter | |
| XM_011545468.1:c.6790C>T | XP_011543770.1:p.Gln2264Ter | |
| XM_006724469.3:c.6766C>T | XP_006724532.1:p.Gln2256Ter | |
| XM_006724470.3:c.6790C>T | XP_006724533.1:p.Gln2264Ter | |
| XM_006724474.3:c.6790C>T | XP_006724537.1:p.Gln2264Ter | |
| XM_011545468.2:c.6790C>T | XP_011543770.1:p.Gln2264Ter | |
| XM_017029328.1:c.6790C>T | XP_016884817.1:p.Gln2264Ter | |
| XM_017029331.1:c.964C>T | XP_016884820.1:p.Gln322Ter | |
| NM_000109.4:c.6766C>T | NP_000100.3:p.Gln2256Ter | |
| NM_004006.3:c.6790C>T MANE Select | NP_003997.2:p.Gln2264Ter | |
| NM_004011.4:c.2767C>T | NP_004002.3:p.Gln923Ter | |
| NM_004012.4:c.2758C>T | NP_004003.2:p.Gln920Ter | |
| NM_004021.3:c.-591C>T | NP_004012.2:n.-591C>T | |
| NM_004023.3:c.-591C>T | NP_004014.2:n.-591C>T | |
| NM_004013.3:c.-591C>T | NP_004004.2:n.-591C>T | |
| NM_004020.4:c.-591C>T | NP_004011.3:n.-591C>T | |
| NM_004022.3:c.-591C>T | NP_004013.2:n.-591C>T |