Linked Data
ClinVar Variation Id:
386468
dbSNP Id:
rs77164606
ExAC:
18:67715191 C / A
gnomAD v2:
18-67715191-C-A
gnomAD v3:
18-70047955-C-A
gnomAD v4:
18-70047955-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70047955C>A , CM000680.2:g.70047955C>A | GRCh38 |
| NC_000018.9:g.67715191C>A , CM000680.1:g.67715191C>A | GRCh37 |
| NC_000018.8:g.65866171C>A | NCBI36 |
| NG_033104.1:g.162772G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255674.11:c.5541+16G>T | ENSP00000255674.7:n.5541+16G>T | |
| ENST00000579986.6:c.1628+16G>T | ENSP00000491518.1:n.1628+16G>T | |
| ENST00000639128.1:n.3087+16G>T | ||
| ENST00000639487.1:c.915+16G>T | ||
| ENST00000640769.2:c.5541+16G>T MANE Select | ENSP00000491507.1:n.5541+16G>T | |
| ENST00000677824.1:c.2940+16G>T | ENSP00000504646.1:n.2940+16G>T | |
| ENST00000679113.1:c.2962+16G>T | ENSP00000504487.1:n.2962+16G>T | |
| ENST00000255674.10:c.5541+16G>T | ENSP00000255674.6:n.5541+16G>T | |
| ENST00000581161.5:c.*3855+16G>T | ENSP00000462926.1:n.*3855+16G>T | |
| ENST00000583043.5:c.4822+16G>T | ENSP00000462733.1:n.4822+16G>T | |
| NM_173630.3:c.5541+16G>T | NP_775901.3:n.5541+16G>T | |
| XM_005266679.1:c.2805+16G>T | XP_005266736.1:n.2805+16G>T | |
| XM_006722434.2:c.5544+16G>T | XP_006722497.1:n.5544+16G>T | |
| XM_006722435.2:c.5544+16G>T | XP_006722498.1:n.5544+16G>T | |
| XM_011525902.1:c.5304+16G>T | XP_011524204.1:n.5304+16G>T | |
| XM_011525903.1:c.5115+16G>T | XP_011524205.1:n.5115+16G>T | |
| XM_011525904.1:c.5544+16G>T | XP_011524206.1:n.5544+16G>T | |
| XM_011525905.1:c.5326+3456G>T | XP_011524207.1:n.5326+3456G>T | |
| XM_011525906.1:c.4044+16G>T | XP_011524208.1:n.4044+16G>T | |
| XR_430072.2:n.5582+16G>T | ||
| NM_001318520.1:c.2805+16G>T | NP_001305449.1:n.2805+16G>T | |
| XM_006722434.3:c.5544+16G>T | XP_006722497.1:n.5544+16G>T | |
| XM_006722435.3:c.5544+16G>T | XP_006722498.1:n.5544+16G>T | |
| XM_011525902.2:c.5304+16G>T | XP_011524204.1:n.5304+16G>T | |
| XM_011525903.2:c.5115+16G>T | XP_011524205.1:n.5115+16G>T | |
| XM_011525904.3:c.5544+16G>T | XP_011524206.1:n.5544+16G>T | |
| XM_011525905.2:c.5326+3456G>T | XP_011524207.1:n.5326+3456G>T | |
| XM_011525906.2:c.4044+16G>T | XP_011524208.1:n.4044+16G>T | |
| XM_017025693.1:c.5301+16G>T | XP_016881182.1:n.5301+16G>T | |
| XM_017025694.1:c.4902+16G>T | XP_016881183.1:n.4902+16G>T | |
| XM_017025695.1:c.4479+16G>T | XP_016881184.1:n.4479+16G>T | |
| XM_017025696.1:c.3435+16G>T | XP_016881185.1:n.3435+16G>T | |
| XM_024451139.1:c.4764+16G>T | XP_024306907.1:n.4764+16G>T | |
| XM_024451140.1:c.4764+16G>T | XP_024306908.1:n.4764+16G>T | |
| XR_430072.3:n.5612+16G>T | ||
| NM_001318520.2:c.2805+16G>T | NP_001305449.1:n.2805+16G>T | |
| NM_173630.4:c.5541+16G>T MANE Select | NP_775901.3:n.5541+16G>T |