Linked Data
ClinVar Variation Id:
368199
ClinVar RCV Id:
RCV000308094
dbSNP Id:
rs1057515853
gnomAD v3:
X-31119605-A-G
gnomAD v4:
X-31119605-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31119605A>G , CM000685.2:g.31119605A>G | GRCh38 |
| NC_000023.10:g.31137722A>G , CM000685.1:g.31137722A>G | GRCh37 |
| NC_000023.9:g.31047643A>G | NCBI36 |
| NG_012232.1:g.2225005T>C , LRG_199:g.2225005T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.8147T>C | ENSP00000350765.3:n.8147T>C | |
| ENST00000680162.2:c.*2228T>C | ENSP00000506634.2:n.*2228T>C | |
| ENST00000681989.1:n.4138T>C | ||
| ENST00000682238.1:c.*2228T>C | ENSP00000508124.1:n.*2228T>C | |
| ENST00000682322.1:c.*2314T>C | ENSP00000507690.1:n.*2314T>C | |
| ENST00000682600.1:c.*2314T>C | ENSP00000507640.1:n.*2314T>C | |
| ENST00000683675.1:n.4471T>C | ||
| ENST00000684072.1:n.3601T>C | ||
| ENST00000684130.1:c.*2314T>C | ENSP00000508037.1:n.*2314T>C | |
| ENST00000343523.7:c.*2314T>C | ENSP00000340057.4:n.*2314T>C | |
| ENST00000357033.9:c.*2314T>C MANE Select | ENSP00000354923.3:n.*2314T>C | |
| ENST00000619831.5:c.*2314T>C | ENSP00000479270.2:n.*2314T>C | |
| ENST00000620040.5:c.*2228T>C | ENSP00000478150.2:n.*2228T>C | |
| ENST00000679437.1:c.*2228T>C | ENSP00000506629.1:n.*2228T>C | |
| ENST00000679482.1:n.2914T>C | ||
| ENST00000679641.1:c.*3012T>C | ENSP00000506135.1:n.*3012T>C | |
| ENST00000679669.1:n.2482T>C | ||
| ENST00000679850.1:n.8383T>C | ||
| ENST00000680162.1:c.*2228T>C | ENSP00000506634.1:n.*2228T>C | |
| ENST00000680355.1:c.*2314T>C | ENSP00000506257.1:n.*2314T>C | |
| ENST00000680557.1:c.*2371T>C | ENSP00000505164.1:n.*2371T>C | |
| ENST00000680701.1:n.3147T>C | ||
| ENST00000680961.1:c.*3303T>C | ENSP00000506386.1:n.*3303T>C | |
| ENST00000681026.1:c.*2228T>C | ENSP00000506689.1:n.*2228T>C | |
| ENST00000343523.6:c.*2314T>C | ENSP00000340057.3:n.*2314T>C | |
| ENST00000357033.8:c.*2314T>C | ENSP00000354923.3:n.*2314T>C | |
| ENST00000358062.6:c.6389T>C | ENSP00000350765.2:n.6389T>C | |
| ENST00000359836.5:c.*2228T>C | ENSP00000352894.1:n.*2228T>C | |
| ENST00000378677.6:c.*2314T>C | ENSP00000367948.2:n.*2314T>C | |
| ENST00000378707.7:c.*2314T>C | ENSP00000367979.3:n.*2314T>C | |
| ENST00000378723.7:c.*2228T>C | ENSP00000367997.3:n.*2228T>C | |
| ENST00000481143.2:n.115-21422T>C | ||
| ENST00000541735.5:c.*2314T>C | ENSP00000444119.1:n.*2314T>C | |
| ENST00000619831.4:c.13357T>C | ENSP00000479270.1:n.13357T>C | |
| ENST00000620040.4:c.13369T>C | ENSP00000478150.1:n.13369T>C | |
| NM_000109.3:c.*2314T>C | NP_000100.2:n.*2314T>C | |
| NM_004006.2:c.*2314T>C , LRG_199t1:c.*2314T>C | NP_003997.1:n.*2314T>C | |
| NM_004009.3:c.*2314T>C | NP_004000.1:n.*2314T>C | |
| NM_004010.3:c.*2314T>C | NP_004001.1:n.*2314T>C | |
| NM_004011.3:c.*2314T>C | NP_004002.2:n.*2314T>C | |
| NM_004012.3:c.*2314T>C | NP_004003.1:n.*2314T>C | |
| NM_004013.2:c.*2314T>C | NP_004004.1:n.*2314T>C | |
| NM_004014.2:c.*2314T>C | NP_004005.1:n.*2314T>C | |
| NM_004015.2:c.*2314T>C | NP_004006.1:n.*2314T>C | |
| NM_004016.2:c.*2228T>C | NP_004007.1:n.*2228T>C | |
| NM_004017.2:c.*2314T>C | NP_004008.1:n.*2314T>C | |
| NM_004018.2:c.*2228T>C | NP_004009.1:n.*2228T>C | |
| NM_004020.3:c.*2314T>C | NP_004011.2:n.*2314T>C | |
| NM_004021.2:c.*2228T>C | NP_004012.1:n.*2228T>C | |
| NM_004022.2:c.*2228T>C | NP_004013.1:n.*2228T>C | |
| NM_004023.2:c.*2228T>C | NP_004014.1:n.*2228T>C | |
| XM_006724468.2:c.*2228T>C | XP_006724531.1:n.*2228T>C | |
| XM_006724469.2:c.*2228T>C | XP_006724532.1:n.*2228T>C | |
| XM_006724470.2:c.*2228T>C | XP_006724533.1:n.*2228T>C | |
| XM_006724471.2:c.*2228T>C | XP_006724534.1:n.*2228T>C | |
| XM_006724472.2:c.*2228T>C | XP_006724535.1:n.*2228T>C | |
| XM_006724473.2:c.*2228T>C | XP_006724536.1:n.*2228T>C | |
| XM_006724474.2:c.*2228T>C | XP_006724537.1:n.*2228T>C | |
| XM_006724475.2:c.*2314T>C | XP_006724538.1:n.*2314T>C | |
| XM_011545467.1:c.*2228T>C | XP_011543769.1:n.*2228T>C | |
| XM_006724469.3:c.*2228T>C | XP_006724532.1:n.*2228T>C | |
| XM_006724470.3:c.*2228T>C | XP_006724533.1:n.*2228T>C | |
| XM_017029328.1:c.*2314T>C | XP_016884817.1:n.*2314T>C | |
| XM_017029331.1:c.*2228T>C | XP_016884820.1:n.*2228T>C | |
| NM_000109.4:c.*2314T>C | NP_000100.3:n.*2314T>C | |
| NM_004006.3:c.*2314T>C MANE Select | NP_003997.2:n.*2314T>C | |
| NM_004011.4:c.*2314T>C | NP_004002.3:n.*2314T>C | |
| NM_004012.4:c.*2314T>C | NP_004003.2:n.*2314T>C | |
| NM_004015.3:c.*2314T>C | NP_004006.1:n.*2314T>C | |
| NM_004016.3:c.*2228T>C | NP_004007.1:n.*2228T>C | |
| NM_004017.3:c.*2314T>C | NP_004008.1:n.*2314T>C | |
| NM_004018.3:c.*2228T>C | NP_004009.1:n.*2228T>C | |
| NM_004021.3:c.*2228T>C | NP_004012.2:n.*2228T>C | |
| NM_004023.3:c.*2228T>C | NP_004014.2:n.*2228T>C | |
| NM_004013.3:c.*2314T>C | NP_004004.2:n.*2314T>C | |
| NM_004014.3:c.*2314T>C | NP_004005.2:n.*2314T>C | |
| NM_004020.4:c.*2314T>C | NP_004011.3:n.*2314T>C | |
| NM_004022.3:c.*2228T>C | NP_004013.2:n.*2228T>C |