Linked Data
dbSNP Id:
rs201880542
ExAC:
2:239306067 C / T
gnomAD v2:
2-239306067-C-T
gnomAD v3:
2-238397426-C-T
gnomAD v4:
2-238397426-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238397426C>T , CM000664.2:g.238397426C>T | GRCh38 |
| NC_000002.11:g.239306067C>T , CM000664.1:g.239306067C>T | GRCh37 |
| NC_000002.10:g.238970806C>T | NCBI36 |
| NG_053055.1:g.81938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373327.5:c.1690-33C>T MANE Select | ENSP00000362424.4:n.1690-33C>T | |
| ENST00000373327.4:c.1690-33C>T | ENSP00000362424.4:n.1690-33C>T | |
| ENST00000391993.7:c.1492-33C>T | ENSP00000375851.3:n.1492-33C>T | |
| ENST00000462122.1:n.701-33C>T | ||
| ENST00000483951.1:n.5C>T | ||
| NM_001139490.1:c.1492-33C>T | NP_001132962.1:n.1492-33C>T | |
| NM_015650.3:c.1690-33C>T | NP_056465.2:n.1690-33C>T | |
| XM_006712414.1:c.1489-33C>T | XP_006712477.1:n.1489-33C>T | |
| XM_011510944.1:c.1792-33C>T | XP_011509246.1:n.1792-33C>T | |
| XM_011510945.1:c.1753-33C>T | XP_011509247.1:n.1753-33C>T | |
| XM_011510946.1:c.1720-33C>T | XP_011509248.1:n.1720-33C>T | |
| XM_011510947.1:c.1660-33C>T | XP_011509249.1:n.1660-33C>T | |
| XM_011510948.1:c.1594-33C>T | XP_011509250.1:n.1594-33C>T | |
| XM_011510950.1:c.658-33C>T | XP_011509252.1:n.658-33C>T | |
| XR_922902.1:n.1989-33C>T | ||
| XM_006712414.2:c.1489-33C>T | XP_006712477.1:n.1489-33C>T | |
| XM_011510944.2:c.1792-33C>T | XP_011509246.1:n.1792-33C>T | |
| XM_011510945.2:c.1753-33C>T | XP_011509247.1:n.1753-33C>T | |
| XM_011510946.2:c.1720-33C>T | XP_011509248.1:n.1720-33C>T | |
| XM_011510947.2:c.1660-33C>T | XP_011509249.1:n.1660-33C>T | |
| XM_011510948.2:c.1594-33C>T | XP_011509250.1:n.1594-33C>T | |
| XM_011510950.2:c.658-33C>T | XP_011509252.1:n.658-33C>T | |
| XM_017003789.1:c.1789-33C>T | XP_016859278.1:n.1789-33C>T | |
| XR_001738696.1:n.1518-33C>T | ||
| XR_001738697.1:n.1515-33C>T | ||
| XR_922902.2:n.2052-33C>T | ||
| NM_015650.4:c.1690-33C>T MANE Select | NP_056465.2:n.1690-33C>T |