Linked Data
dbSNP Id:
rs4665058
gnomAD v2:
2-160190209-A-C
gnomAD v3:
2-159333698-A-C
gnomAD v4:
2-159333698-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.159333698A>C , CM000664.2:g.159333698A>C | GRCh38 |
| NC_000002.11:g.160190209A>C , CM000664.1:g.160190209A>C | GRCh37 |
| NC_000002.10:g.159898455A>C | NCBI36 |
| NG_051314.1:g.383742T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392783.7:c.5797-1012T>G MANE Select | ENSP00000376534.2:n.5797-1012T>G | |
| ENST00000392782.5:c.5689-1012T>G | ENSP00000376533.1:n.5689-1012T>G | |
| ENST00000392783.6:c.5797-1012T>G | ENSP00000376534.2:n.5797-1012T>G | |
| ENST00000474437.1:n.337-1012T>G | ||
| NM_001289975.1:c.5689-1012T>G | NP_001276904.1:n.5689-1012T>G | |
| NM_013450.3:c.5797-1012T>G | NP_038478.2:n.5797-1012T>G | |
| XM_005246488.2:c.5935-1012T>G | XP_005246545.2:n.5935-1012T>G | |
| XM_005246489.3:c.5935-1012T>G | XP_005246546.2:n.5935-1012T>G | |
| XM_005246492.3:c.5929-1012T>G | XP_005246549.2:n.5929-1012T>G | |
| XM_006712461.2:c.5935-1012T>G | XP_006712524.2:n.5935-1012T>G | |
| XM_011511036.1:c.5986-1012T>G | XP_011509338.1:n.5986-1012T>G | |
| XM_011511037.1:c.5986-1012T>G | XP_011509339.1:n.5986-1012T>G | |
| XM_011511038.1:c.5929-1012T>G | XP_011509340.1:n.5929-1012T>G | |
| XM_011511039.1:c.5902-1012T>G | XP_011509341.1:n.5902-1012T>G | |
| XM_011511040.1:c.5935-1012T>G | XP_011509342.1:n.5935-1012T>G | |
| XM_011511041.1:c.5833-1012T>G | XP_011509343.1:n.5833-1012T>G | |
| XM_011511042.1:c.5830-1012T>G | XP_011509344.1:n.5830-1012T>G | |
| XM_011511043.1:c.5800-1012T>G | XP_011509345.1:n.5800-1012T>G | |
| XM_011511044.1:c.5827-1012T>G | XP_011509346.1:n.5827-1012T>G | |
| XM_011511045.1:c.5740-1012T>G | XP_011509347.1:n.5740-1012T>G | |
| XM_011511046.1:c.5800-1012T>G | XP_011509348.1:n.5800-1012T>G | |
| XM_011511047.1:c.5746-1012T>G | XP_011509349.1:n.5746-1012T>G | |
| XM_011511048.1:c.5746-1012T>G | XP_011509350.1:n.5746-1012T>G | |
| XM_011511049.1:c.5641-1012T>G | XP_011509351.1:n.5641-1012T>G | |
| XM_011511050.1:c.5635-1012T>G | XP_011509352.1:n.5635-1012T>G | |
| XM_011511051.1:c.5716-1012T>G | XP_011509353.1:n.5716-1012T>G | |
| XM_011511052.1:c.5539-1012T>G | XP_011509354.1:n.5539-1012T>G | |
| XM_011511053.1:c.5935-1012T>G | XP_011509355.1:n.5935-1012T>G | |
| XM_011511054.1:c.5694-1012T>G | XP_011509356.1:n.5694-1012T>G | |
| XM_011511055.1:c.5694-1012T>G | XP_011509357.1:n.5694-1012T>G | |
| XM_011511056.1:c.3487-1012T>G | XP_011509358.1:n.3487-1012T>G | |
| XM_011511057.1:c.2929-1012T>G | XP_011509359.1:n.2929-1012T>G | |
| NM_001329857.1:c.5740-1012T>G | NP_001316786.1:n.5740-1012T>G | |
| NM_001329858.1:c.5722-1012T>G | NP_001316787.1:n.5722-1012T>G | |
| XM_005246489.4:c.5935-1012T>G | XP_005246546.2:n.5935-1012T>G | |
| XM_005246492.4:c.5929-1012T>G | XP_005246549.2:n.5929-1012T>G | |
| XM_011511038.2:c.5929-1012T>G | XP_011509340.1:n.5929-1012T>G | |
| XM_011511048.2:c.5746-1012T>G | XP_011509350.1:n.5746-1012T>G | |
| XM_011511053.3:c.5935-1012T>G | XP_011509355.1:n.5935-1012T>G | |
| XM_011511054.2:c.5694-1012T>G | XP_011509356.1:n.5694-1012T>G | |
| XM_017003920.1:c.5935-1012T>G | XP_016859409.1:n.5935-1012T>G | |
| XM_017003921.1:c.5929-1012T>G | XP_016859410.1:n.5929-1012T>G | |
| XM_017003922.1:c.5929-1012T>G | XP_016859411.1:n.5929-1012T>G | |
| XM_017003923.1:c.5929-1012T>G | XP_016859412.1:n.5929-1012T>G | |
| XM_017003924.1:c.5827-1012T>G | XP_016859413.1:n.5827-1012T>G | |
| XM_017003925.1:c.5833-1012T>G | XP_016859414.1:n.5833-1012T>G | |
| XM_017003926.1:c.5734-1012T>G | XP_016859415.1:n.5734-1012T>G | |
| XM_017003928.1:c.5641-1012T>G | XP_016859417.1:n.5641-1012T>G | |
| XM_017003930.1:c.5635-1012T>G | XP_016859419.1:n.5635-1012T>G | |
| XM_017003931.1:c.5629-1012T>G | XP_016859420.1:n.5629-1012T>G | |
| XM_017003933.1:c.5452-1012T>G | XP_016859422.1:n.5452-1012T>G | |
| XM_017003934.1:c.5446-1012T>G | XP_016859423.1:n.5446-1012T>G | |
| XM_017003935.1:c.5350-1012T>G | XP_016859424.1:n.5350-1012T>G | |
| XM_017003936.1:c.5338-1012T>G | XP_016859425.1:n.5338-1012T>G | |
| XM_017003937.1:c.3160-1012T>G | XP_016859426.1:n.3160-1012T>G | |
| XM_024452825.1:c.5986-1012T>G | XP_024308593.1:n.5986-1012T>G | |
| XM_024452826.1:c.5986-1012T>G | XP_024308594.1:n.5986-1012T>G | |
| XM_024452827.1:c.5986-1012T>G | XP_024308595.1:n.5986-1012T>G | |
| XM_024452828.1:c.5935-1012T>G | XP_024308596.1:n.5935-1012T>G | |
| XM_024452829.1:c.5833-1012T>G | XP_024308597.1:n.5833-1012T>G | |
| XR_001738732.1:n.5696-1012T>G | ||
| XR_001738733.1:n.5696-1012T>G | ||
| NM_013450.4:c.5797-1012T>G MANE Select | NP_038478.2:n.5797-1012T>G | |
| NM_001329857.2:c.5740-1012T>G | NP_001316786.1:n.5740-1012T>G | |
| NM_001329858.2:c.5722-1012T>G | NP_001316787.1:n.5722-1012T>G |