Linked Data
dbSNP Id:
rs369175311
ExAC:
1:92732022 G / A
gnomAD v2:
1-92732022-G-A
gnomAD v3:
1-92266465-G-A
gnomAD v4:
1-92266465-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92266465G>A , CM000663.2:g.92266465G>A | GRCh38 |
| NC_000001.10:g.92732022G>A , CM000663.1:g.92732022G>A | GRCh37 |
| NC_000001.9:g.92504610G>A | NCBI36 |
| NG_009796.1:g.37545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370360.8:c.1168C>T MANE Select | ENSP00000359385.3:p.Leu390= | |
| ENST00000370360.7:c.1168C>T | ENSP00000359385.3:p.Leu390= | |
| ENST00000463560.1:c.562+75C>T | ||
| ENST00000495106.5:c.1168C>T | ENSP00000436829.1:p.Leu390= | |
| ENST00000495852.6:c.391C>T | ENSP00000469157.2:p.Leu131= | |
| NM_053274.2:c.1168C>T | NP_444504.1:p.Leu390= | |
| XM_005270400.1:c.1126C>T | XP_005270457.1:p.Leu376= | |
| XM_005270401.2:c.1042C>T | XP_005270458.1:p.Leu348= | |
| XM_006710309.1:c.667C>T | XP_006710372.1:p.Leu223= | |
| XM_011540544.1:c.1168C>T | XP_011538846.1:p.Leu390= | |
| XM_011540545.1:c.1168C>T | XP_011538847.1:p.Leu390= | |
| XM_011540546.1:c.1168C>T | XP_011538848.1:p.Leu390= | |
| XR_946529.1:n.1309+75C>T | ||
| NM_001319683.1:c.1126C>T | NP_001306612.1:p.Leu376= | |
| NR_135089.1:n.1283C>T | ||
| XM_005270401.3:c.1042C>T | XP_005270458.1:p.Leu348= | |
| XM_006710309.2:c.667C>T | XP_006710372.1:p.Leu223= | |
| XM_011540546.2:c.1168C>T | XP_011538848.1:p.Leu390= | |
| XM_017000137.1:c.1267C>T | XP_016855626.1:p.Leu423= | |
| XM_017000138.1:c.1225C>T | XP_016855627.1:p.Leu409= | |
| XM_017000139.1:c.1293+75C>T | XP_016855628.1:n.1293+75C>T | |
| XM_017000140.1:c.1141C>T | XP_016855629.1:p.Leu381= | |
| XM_017000141.1:c.1194+75C>T | XP_016855630.1:n.1194+75C>T | |
| XM_017000142.1:c.625C>T | XP_016855631.1:p.Leu209= | |
| XM_017000143.1:c.625C>T | XP_016855632.1:p.Leu209= | |
| XM_017000144.1:c.397C>T | XP_016855633.1:p.Leu133= | |
| XR_002959248.1:n.1677+75C>T | ||
| XR_002959249.1:n.1309+75C>T | ||
| NM_053274.3:c.1168C>T MANE Select | NP_444504.1:p.Leu390= | |
| NM_001319683.2:c.1126C>T | NP_001306612.1:p.Leu376= | |
| NR_135089.2:n.1261C>T |