Linked Data
dbSNP Id:
rs778723224
ExAC:
1:92732005 C / T
gnomAD v2:
1-92732005-C-T
gnomAD v4:
1-92266448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92266448C>T , CM000663.2:g.92266448C>T | GRCh38 |
| NC_000001.10:g.92732005C>T , CM000663.1:g.92732005C>T | GRCh37 |
| NC_000001.9:g.92504593C>T | NCBI36 |
| NG_009796.1:g.37562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370360.8:c.1185G>A MANE Select | ENSP00000359385.3:p.Leu395= | |
| ENST00000370360.7:c.1185G>A | ENSP00000359385.3:p.Leu395= | |
| ENST00000463560.1:c.562+92G>A | ||
| ENST00000495106.5:c.1185G>A | ENSP00000436829.1:p.Leu395= | |
| ENST00000495852.6:c.408G>A | ENSP00000469157.2:p.Leu136= | |
| NM_053274.2:c.1185G>A | NP_444504.1:p.Leu395= | |
| XM_005270400.1:c.1143G>A | XP_005270457.1:p.Leu381= | |
| XM_005270401.2:c.1059G>A | XP_005270458.1:p.Leu353= | |
| XM_006710309.1:c.684G>A | XP_006710372.1:p.Leu228= | |
| XM_011540544.1:c.1185G>A | XP_011538846.1:p.Leu395= | |
| XM_011540545.1:c.1185G>A | XP_011538847.1:p.Leu395= | |
| XM_011540546.1:c.1185G>A | XP_011538848.1:p.Leu395= | |
| XR_946529.1:n.1309+92G>A | ||
| NM_001319683.1:c.1143G>A | NP_001306612.1:p.Leu381= | |
| NR_135089.1:n.1300G>A | ||
| XM_005270401.3:c.1059G>A | XP_005270458.1:p.Leu353= | |
| XM_006710309.2:c.684G>A | XP_006710372.1:p.Leu228= | |
| XM_011540546.2:c.1185G>A | XP_011538848.1:p.Leu395= | |
| XM_017000137.1:c.1284G>A | XP_016855626.1:p.Leu428= | |
| XM_017000138.1:c.1242G>A | XP_016855627.1:p.Leu414= | |
| XM_017000139.1:c.1293+92G>A | XP_016855628.1:n.1293+92G>A | |
| XM_017000140.1:c.1158G>A | XP_016855629.1:p.Leu386= | |
| XM_017000141.1:c.1194+92G>A | XP_016855630.1:n.1194+92G>A | |
| XM_017000142.1:c.642G>A | XP_016855631.1:p.Leu214= | |
| XM_017000143.1:c.642G>A | XP_016855632.1:p.Leu214= | |
| XM_017000144.1:c.414G>A | XP_016855633.1:p.Leu138= | |
| XR_002959248.1:n.1677+92G>A | ||
| XR_002959249.1:n.1309+92G>A | ||
| NM_053274.3:c.1185G>A MANE Select | NP_444504.1:p.Leu395= | |
| NM_001319683.2:c.1143G>A | NP_001306612.1:p.Leu381= | |
| NR_135089.2:n.1278G>A |