Linked Data
dbSNP Id:
rs13008603
gnomAD v2:
2-46355848-C-A
gnomAD v3:
2-46128709-C-A
gnomAD v4:
2-46128709-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46128709C>A , CM000664.2:g.46128709C>A | GRCh38 |
| NC_000002.11:g.46355848C>A , CM000664.1:g.46355848C>A | GRCh37 |
| NC_000002.10:g.46209352C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306156.8:c.1593-16384C>A MANE Select | ENSP00000306124.3:n.1593-16384C>A | |
| ENST00000306156.7:c.1593-16384C>A | ENSP00000306124.3:n.1593-16384C>A | |
| ENST00000469753.5:n.680-16384C>A | ||
| ENST00000480633.1:n.359-16384C>A | ||
| NM_005400.2:c.1593-16384C>A | NP_005391.1:n.1593-16384C>A | |
| XM_005264428.1:c.1593-16384C>A | XP_005264485.1:n.1593-16384C>A | |
| XM_005264429.1:c.1182-16384C>A | XP_005264486.1:n.1182-16384C>A | |
| XM_006712050.2:c.762-16384C>A | XP_006712113.1:n.762-16384C>A | |
| XM_011532970.1:c.1305-16384C>A | XP_011531272.1:n.1305-16384C>A | |
| XM_011532971.1:c.1305-16384C>A | XP_011531273.1:n.1305-16384C>A | |
| XM_011532972.1:c.1305-16384C>A | XP_011531274.1:n.1305-16384C>A | |
| XM_011532973.1:c.1305-16384C>A | XP_011531275.1:n.1305-16384C>A | |
| XM_011532974.1:c.1305-16384C>A | XP_011531276.1:n.1305-16384C>A | |
| XM_011532975.1:c.1305-16384C>A | XP_011531277.1:n.1305-16384C>A | |
| XM_011532976.1:c.1305-16384C>A | XP_011531278.1:n.1305-16384C>A | |
| XM_011532977.1:c.1251-16384C>A | XP_011531279.1:n.1251-16384C>A | |
| XM_011532978.1:c.1251-16384C>A | XP_011531280.1:n.1251-16384C>A | |
| XM_011532979.1:c.1248-16384C>A | XP_011531281.1:n.1248-16384C>A | |
| XM_011532980.1:c.1143-16384C>A | XP_011531282.1:n.1143-16384C>A | |
| XM_011532981.1:c.1143-16384C>A | XP_011531283.1:n.1143-16384C>A | |
| XM_011532982.1:c.873-16384C>A | XP_011531284.1:n.873-16384C>A | |
| XM_011532983.1:c.690-16384C>A | XP_011531285.1:n.690-16384C>A | |
| XM_006712050.3:c.762-16384C>A | XP_006712113.1:n.762-16384C>A | |
| XM_011532971.3:c.1305-16384C>A | XP_011531273.1:n.1305-16384C>A | |
| XM_011532975.3:c.1305-16384C>A | XP_011531277.1:n.1305-16384C>A | |
| XM_011532978.2:c.1251-16384C>A | XP_011531280.1:n.1251-16384C>A | |
| XM_011532980.3:c.1143-16384C>A | XP_011531282.1:n.1143-16384C>A | |
| XM_011532981.3:c.1143-16384C>A | XP_011531283.1:n.1143-16384C>A | |
| XM_011532982.2:c.873-16384C>A | XP_011531284.1:n.873-16384C>A | |
| XM_011532983.2:c.690-16384C>A | XP_011531285.1:n.690-16384C>A | |
| XM_017004486.2:c.1305-16384C>A | XP_016859975.1:n.1305-16384C>A | |
| XM_017004487.2:c.1251-16384C>A | XP_016859976.1:n.1251-16384C>A | |
| XM_017004488.2:c.1251-16384C>A | XP_016859977.1:n.1251-16384C>A | |
| XM_017004489.2:c.1143-16384C>A | XP_016859978.1:n.1143-16384C>A | |
| XM_017004490.2:c.1143-16384C>A | XP_016859979.1:n.1143-16384C>A | |
| XM_017004491.2:c.1143-16384C>A | XP_016859980.1:n.1143-16384C>A | |
| XM_024452991.1:c.1143-16384C>A | XP_024308759.1:n.1143-16384C>A | |
| XM_024452992.1:c.1143-16384C>A | XP_024308760.1:n.1143-16384C>A | |
| NM_005400.3:c.1593-16384C>A MANE Select | NP_005391.1:n.1593-16384C>A |