Linked Data
ClinVar Variation Id:
287820
ClinVar RCV Id:
RCV000368803
dbSNP Id:
rs886043740
gnomAD v4:
X-31774148-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31774148T>C , CM000685.2:g.31774148T>C | GRCh38 |
| NC_000023.10:g.31792265T>C , CM000685.1:g.31792265T>C | GRCh37 |
| NC_000023.9:g.31702186T>C | NCBI36 |
| NG_012232.1:g.1570462A>G , LRG_199:g.1570462A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2200A>G | ENSP00000350765.3:p.Lys734Glu | |
| ENST00000682238.1:c.-27A>G | ENSP00000508124.1:n.-27A>G | |
| ENST00000683117.1:n.1015A>G | ||
| ENST00000683450.1:n.937A>G | ||
| ENST00000683851.1:n.1015A>G | ||
| ENST00000683957.1:n.846A>G | ||
| ENST00000684130.1:c.-27A>G | ENSP00000508037.1:n.-27A>G | |
| ENST00000357033.9:c.7354A>G MANE Select | ENSP00000354923.3:p.Lys2452Glu | |
| ENST00000619831.5:c.3322A>G | ENSP00000479270.2:p.Lys1108Glu | |
| ENST00000620040.5:c.-27A>G | ENSP00000478150.2:n.-27A>G | |
| ENST00000680961.1:c.-27A>G | ENSP00000506386.1:n.-27A>G | |
| ENST00000681646.1:n.1015A>G | ||
| ENST00000681839.1:c.343A>G | ENSP00000505228.1:p.Lys115Glu | |
| ENST00000357033.8:c.7354A>G | ENSP00000354923.3:p.Lys2452Glu | |
| ENST00000358062.6:c.442A>G | ENSP00000350765.2:p.Lys148Glu | |
| ENST00000359836.5:c.-27A>G | ENSP00000352894.1:n.-27A>G | |
| ENST00000378677.6:c.7342A>G | ENSP00000367948.2:p.Lys2448Glu | |
| ENST00000378707.7:c.-27A>G | ENSP00000367979.3:n.-27A>G | |
| ENST00000471779.1:c.111A>G | ENSP00000417075.1:n.111A>G | |
| ENST00000474231.5:c.-27A>G | ENSP00000417123.1:n.-27A>G | |
| ENST00000541735.5:c.-27A>G | ENSP00000444119.1:n.-27A>G | |
| ENST00000619831.4:c.7339A>G | ENSP00000479270.1:p.Lys2447Glu | |
| ENST00000620040.4:c.7351A>G | ENSP00000478150.1:p.Lys2451Glu | |
| NM_000109.3:c.7330A>G | NP_000100.2:p.Lys2444Glu | |
| NM_004006.2:c.7354A>G , LRG_199t1:c.7354A>G | NP_003997.1:p.Lys2452Glu | |
| NM_004009.3:c.7342A>G | NP_004000.1:p.Lys2448Glu | |
| NM_004010.3:c.6985A>G | NP_004001.1:p.Lys2329Glu | |
| NM_004011.3:c.3331A>G | NP_004002.2:p.Lys1111Glu | |
| NM_004012.3:c.3322A>G | NP_004003.1:p.Lys1108Glu | |
| NM_004013.2:c.-27A>G | NP_004004.1:n.-27A>G | |
| NM_004020.3:c.-27A>G | NP_004011.2:n.-27A>G | |
| NM_004021.2:c.-27A>G | NP_004012.1:n.-27A>G | |
| NM_004022.2:c.-27A>G | NP_004013.1:n.-27A>G | |
| NM_004023.2:c.-27A>G | NP_004014.1:n.-27A>G | |
| XM_006724468.2:c.7354A>G | XP_006724531.1:p.Lys2452Glu | |
| XM_006724469.2:c.7330A>G | XP_006724532.1:p.Lys2444Glu | |
| XM_006724470.2:c.7354A>G | XP_006724533.1:p.Lys2452Glu | |
| XM_006724471.2:c.7354A>G | XP_006724534.1:p.Lys2452Glu | |
| XM_006724472.2:c.7225A>G | XP_006724535.1:p.Lys2409Glu | |
| XM_006724473.2:c.7216A>G | XP_006724536.1:p.Lys2406Glu | |
| XM_006724474.2:c.7354A>G | XP_006724537.1:p.Lys2452Glu | |
| XM_006724475.2:c.7354A>G | XP_006724538.1:p.Lys2452Glu | |
| XM_011545467.1:c.7231A>G | XP_011543769.1:p.Lys2411Glu | |
| XM_011545468.1:c.7354A>G | XP_011543770.1:p.Lys2452Glu | |
| XM_006724469.3:c.7330A>G | XP_006724532.1:p.Lys2444Glu | |
| XM_006724470.3:c.7354A>G | XP_006724533.1:p.Lys2452Glu | |
| XM_006724474.3:c.7354A>G | XP_006724537.1:p.Lys2452Glu | |
| XM_011545468.2:c.7354A>G | XP_011543770.1:p.Lys2452Glu | |
| XM_017029328.1:c.7354A>G | XP_016884817.1:p.Lys2452Glu | |
| XM_017029331.1:c.1528A>G | XP_016884820.1:p.Lys510Glu | |
| NM_000109.4:c.7330A>G | NP_000100.3:p.Lys2444Glu | |
| NM_004006.3:c.7354A>G MANE Select | NP_003997.2:p.Lys2452Glu | |
| NM_004011.4:c.3331A>G | NP_004002.3:p.Lys1111Glu | |
| NM_004012.4:c.3322A>G | NP_004003.2:p.Lys1108Glu | |
| NM_004021.3:c.-27A>G | NP_004012.2:n.-27A>G | |
| NM_004023.3:c.-27A>G | NP_004014.2:n.-27A>G | |
| NM_004013.3:c.-27A>G | NP_004004.2:n.-27A>G | |
| NM_004020.4:c.-27A>G | NP_004011.3:n.-27A>G | |
| NM_004022.3:c.-27A>G | NP_004013.2:n.-27A>G |