Linked Data
dbSNP Id:
rs748916560
ExAC:
2:239306210 G / A
gnomAD v2:
2-239306210-G-A
gnomAD v4:
2-238397569-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238397569G>A , CM000664.2:g.238397569G>A | GRCh38 |
| NC_000002.11:g.239306210G>A , CM000664.1:g.239306210G>A | GRCh37 |
| NC_000002.10:g.238970949G>A | NCBI36 |
| NG_053055.1:g.82081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373327.5:c.1800G>A MANE Select | ENSP00000362424.4:p.Leu600= | |
| ENST00000373327.4:c.1800G>A | ENSP00000362424.4:p.Leu600= | |
| ENST00000391993.7:c.1602G>A | ENSP00000375851.3:p.Leu534= | |
| ENST00000462122.1:n.811G>A | ||
| ENST00000483951.1:n.148G>A | ||
| NM_001139490.1:c.1602G>A | NP_001132962.1:p.Leu534= | |
| NM_015650.3:c.1800G>A | NP_056465.2:p.Leu600= | |
| XM_006712414.1:c.1599G>A | XP_006712477.1:p.Leu533= | |
| XM_011510944.1:c.1902G>A | XP_011509246.1:p.Leu634= | |
| XM_011510945.1:c.1863G>A | XP_011509247.1:p.Leu621= | |
| XM_011510946.1:c.1830G>A | XP_011509248.1:p.Leu610= | |
| XM_011510947.1:c.1770G>A | XP_011509249.1:p.Leu590= | |
| XM_011510948.1:c.1704G>A | XP_011509250.1:p.Leu568= | |
| XM_011510950.1:c.768G>A | XP_011509252.1:p.Leu256= | |
| XM_006712414.2:c.1599G>A | XP_006712477.1:p.Leu533= | |
| XM_011510944.2:c.1902G>A | XP_011509246.1:p.Leu634= | |
| XM_011510945.2:c.1863G>A | XP_011509247.1:p.Leu621= | |
| XM_011510946.2:c.1830G>A | XP_011509248.1:p.Leu610= | |
| XM_011510947.2:c.1770G>A | XP_011509249.1:p.Leu590= | |
| XM_011510948.2:c.1704G>A | XP_011509250.1:p.Leu568= | |
| XM_011510950.2:c.768G>A | XP_011509252.1:p.Leu256= | |
| XM_017003789.1:c.1899G>A | XP_016859278.1:p.Leu633= | |
| XR_001738696.1:n.1628G>A | ||
| XR_001738697.1:n.1625G>A | ||
| NM_015650.4:c.1800G>A MANE Select | NP_056465.2:p.Leu600= |