Linked Data
dbSNP Id:
rs2072476
gnomAD v2:
2-102636864-C-T
gnomAD v3:
2-102020402-C-T
gnomAD v4:
2-102020402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102020402C>T , CM000664.2:g.102020402C>T | GRCh38 |
| NC_000002.11:g.102636864C>T , CM000664.1:g.102636864C>T | GRCh37 |
| NC_000002.10:g.102003296C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332549.8:c.688+590C>T MANE Select | ENSP00000330959.3:n.688+590C>T | |
| ENST00000332549.7:c.688+590C>T | ENSP00000330959.3:n.688+590C>T | |
| ENST00000393414.6:c.688+590C>T | ENSP00000377066.2:n.688+590C>T | |
| ENST00000441002.1:c.688+590C>T | ENSP00000414611.1:n.688+590C>T | |
| NM_001261419.1:c.688+590C>T | NP_001248348.1:n.688+590C>T | |
| NM_004633.3:c.688+590C>T | NP_004624.1:n.688+590C>T | |
| NR_048564.1:n.904+590C>T | ||
| XM_006712734.2:c.688+590C>T | XP_006712797.1:n.688+590C>T | |
| XM_006712736.2:c.763+590C>T | XP_006712799.1:n.763+590C>T | |
| XM_011511801.1:c.817+590C>T | XP_011510103.1:n.817+590C>T | |
| XM_011511802.1:c.817+590C>T | XP_011510104.1:n.817+590C>T | |
| XM_011511803.1:c.706+590C>T | XP_011510105.1:n.706+590C>T | |
| XM_011511804.1:c.688+590C>T | XP_011510106.1:n.688+590C>T | |
| XM_011511805.1:c.628+590C>T | XP_011510107.1:n.628+590C>T | |
| XM_011511806.1:c.817+590C>T | XP_011510108.1:n.817+590C>T | |
| XM_011511807.1:c.818-274C>T | XP_011510109.1:n.818-274C>T | |
| XR_923024.1:n.2562+590C>T | ||
| XM_006712734.3:c.688+590C>T | XP_006712797.1:n.688+590C>T | |
| XM_006712736.3:c.763+590C>T | XP_006712799.1:n.763+590C>T | |
| XM_011511801.2:c.817+590C>T | XP_011510103.1:n.817+590C>T | |
| XM_011511803.2:c.706+590C>T | XP_011510105.1:n.706+590C>T | |
| XM_011511804.3:c.688+590C>T | XP_011510106.1:n.688+590C>T | |
| XM_011511805.3:c.628+590C>T | XP_011510107.1:n.628+590C>T | |
| XM_017004889.1:c.433+590C>T | XP_016860378.1:n.433+590C>T | |
| XM_024453129.1:c.433+590C>T | XP_024308897.1:n.433+590C>T | |
| XR_923024.2:n.3277+590C>T | ||
| NM_004633.4:c.688+590C>T MANE Select | NP_004624.1:n.688+590C>T | |
| NM_001261419.2:c.688+590C>T | NP_001248348.1:n.688+590C>T | |
| NR_048564.2:n.905+590C>T |