Linked Data
dbSNP Id:
rs1471372174
gnomAD v2:
2-239306096-G-A
gnomAD v3:
2-238397455-G-A
gnomAD v4:
2-238397455-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238397455G>A , CM000664.2:g.238397455G>A | GRCh38 |
| NC_000002.11:g.239306096G>A , CM000664.1:g.239306096G>A | GRCh37 |
| NC_000002.10:g.238970835G>A | NCBI36 |
| NG_053055.1:g.81967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373327.5:c.1690-4G>A MANE Select | ENSP00000362424.4:n.1690-4G>A | |
| ENST00000373327.4:c.1690-4G>A | ENSP00000362424.4:n.1690-4G>A | |
| ENST00000391993.7:c.1492-4G>A | ENSP00000375851.3:n.1492-4G>A | |
| ENST00000462122.1:n.701-4G>A | ||
| ENST00000483951.1:n.34G>A | ||
| NM_001139490.1:c.1492-4G>A | NP_001132962.1:n.1492-4G>A | |
| NM_015650.3:c.1690-4G>A | NP_056465.2:n.1690-4G>A | |
| XM_006712414.1:c.1489-4G>A | XP_006712477.1:n.1489-4G>A | |
| XM_011510944.1:c.1792-4G>A | XP_011509246.1:n.1792-4G>A | |
| XM_011510945.1:c.1753-4G>A | XP_011509247.1:n.1753-4G>A | |
| XM_011510946.1:c.1720-4G>A | XP_011509248.1:n.1720-4G>A | |
| XM_011510947.1:c.1660-4G>A | XP_011509249.1:n.1660-4G>A | |
| XM_011510948.1:c.1594-4G>A | XP_011509250.1:n.1594-4G>A | |
| XM_011510950.1:c.658-4G>A | XP_011509252.1:n.658-4G>A | |
| XR_922902.1:n.1989-4G>A | ||
| XM_006712414.2:c.1489-4G>A | XP_006712477.1:n.1489-4G>A | |
| XM_011510944.2:c.1792-4G>A | XP_011509246.1:n.1792-4G>A | |
| XM_011510945.2:c.1753-4G>A | XP_011509247.1:n.1753-4G>A | |
| XM_011510946.2:c.1720-4G>A | XP_011509248.1:n.1720-4G>A | |
| XM_011510947.2:c.1660-4G>A | XP_011509249.1:n.1660-4G>A | |
| XM_011510948.2:c.1594-4G>A | XP_011509250.1:n.1594-4G>A | |
| XM_011510950.2:c.658-4G>A | XP_011509252.1:n.658-4G>A | |
| XM_017003789.1:c.1789-4G>A | XP_016859278.1:n.1789-4G>A | |
| XR_001738696.1:n.1518-4G>A | ||
| XR_001738697.1:n.1515-4G>A | ||
| XR_922902.2:n.2052-4G>A | ||
| NM_015650.4:c.1690-4G>A MANE Select | NP_056465.2:n.1690-4G>A |