Linked Data
dbSNP Id:
rs10191758
gnomAD v2:
2-144263280-A-G
gnomAD v3:
2-143505711-A-G
gnomAD v4:
2-143505711-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.143505711A>G , CM000664.2:g.143505711A>G | GRCh38 |
| NC_000002.11:g.144263280A>G , CM000664.1:g.144263280A>G | GRCh37 |
| NC_000002.10:g.143979750A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295095.11:c.827-13555A>G MANE Select | ENSP00000295095.6:n.827-13555A>G | |
| ENST00000295095.10:c.827-13555A>G | ENSP00000295095.6:n.827-13555A>G | |
| ENST00000548242.5:n.377-13555A>G | ||
| ENST00000552289.1:n.134-13555A>G | ||
| NM_018460.3:c.827-13555A>G | NP_060930.3:n.827-13555A>G | |
| XM_005263714.1:c.125-13555A>G | XP_005263771.1:n.125-13555A>G | |
| XM_006712632.2:c.827-13555A>G | XP_006712695.1:n.827-13555A>G | |
| XM_011511479.1:c.827-13555A>G | XP_011509781.1:n.827-13555A>G | |
| XM_011511480.1:c.827-13555A>G | XP_011509782.1:n.827-13555A>G | |
| XM_011511481.1:c.827-13555A>G | XP_011509783.1:n.827-13555A>G | |
| XM_011511482.1:c.827-13555A>G | XP_011509784.1:n.827-13555A>G | |
| XM_011511483.1:c.593-13555A>G | XP_011509785.1:n.593-13555A>G | |
| XM_011511484.1:c.827-13555A>G | XP_011509786.1:n.827-13555A>G | |
| XM_011511479.2:c.827-13555A>G | XP_011509781.1:n.827-13555A>G | |
| XM_011511481.2:c.827-13555A>G | XP_011509783.1:n.827-13555A>G | |
| XM_011511482.2:c.827-13555A>G | XP_011509784.1:n.827-13555A>G | |
| XM_017004499.2:c.827-13555A>G | XP_016859988.1:n.827-13555A>G | |
| XM_017004500.2:c.698-13555A>G | XP_016859989.1:n.698-13555A>G | |
| XM_017004501.1:c.827-13555A>G | XP_016859990.1:n.827-13555A>G | |
| XM_024453000.1:c.125-13555A>G | XP_024308768.1:n.125-13555A>G | |
| XM_024453001.1:c.125-13555A>G | XP_024308769.1:n.125-13555A>G | |
| XR_001738850.1:n.913-13555A>G | ||
| NM_018460.4:c.827-13555A>G MANE Select | NP_060930.3:n.827-13555A>G |