Linked Data
ClinVar Variation Id:
540447
ClinVar RCV Id:
RCV000650481
dbSNP Id:
rs1489661507
gnomAD v2:
9-35091804-G-T
gnomAD v3:
9-35091807-G-T
gnomAD v4:
9-35091807-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35091807G>T , CM000671.2:g.35091807G>T | GRCh38 |
| NC_000009.11:g.35091804G>T , CM000671.1:g.35091804G>T | GRCh37 |
| NC_000009.10:g.35081804G>T | NCBI36 |
| NG_031990.1:g.9795C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361778.7:c.1345-516C>A | ENSP00000354678.2:n.1345-516C>A | |
| ENST00000700254.1:c.1345-516C>A | ENSP00000514892.1:n.1345-516C>A | |
| ENST00000700255.1:c.*1260C>A | ENSP00000514893.1:n.*1260C>A | |
| ENST00000700256.1:n.2112C>A | ||
| ENST00000700257.1:c.2080C>A | ENSP00000514894.1:p.Leu694Ile | |
| ENST00000700258.1:n.71C>A | ||
| ENST00000700259.1:c.1345-274C>A | ENSP00000514895.1:n.1345-274C>A | |
| ENST00000700260.1:c.1165-516C>A | ENSP00000514896.1:n.1165-516C>A | |
| ENST00000700261.1:c.1361-274C>A | ENSP00000514897.1:n.1361-274C>A | |
| ENST00000700262.1:c.1345-516C>A | ENSP00000514898.1:n.1345-516C>A | |
| ENST00000700263.1:c.1956C>A | ENSP00000514899.1:n.1956C>A | |
| ENST00000700264.1:c.2080C>A | ENSP00000514900.1:p.Leu694Ile | |
| ENST00000378617.4:c.2080C>A MANE Select | ENSP00000367880.3:p.Leu694Ile | |
| ENST00000298004.9:c.1345-516C>A | ENSP00000298004.5:n.1345-516C>A | |
| ENST00000361778.6:c.1345-516C>A | ENSP00000354678.2:n.1345-516C>A | |
| ENST00000378617.3:c.2080C>A | ENSP00000367880.3:p.Leu694Ile | |
| ENST00000465745.6:n.3081C>A | ||
| ENST00000474436.1:n.3538C>A | ||
| NM_001201484.1:c.1345-516C>A | NP_001188413.1:n.1345-516C>A | |
| NM_032634.3:c.2080C>A | NP_116023.2:p.Leu694Ile | |
| NM_152850.3:c.1345-516C>A | NP_690577.2:n.1345-516C>A | |
| XM_005251619.2:c.2080C>A | XP_005251676.1:p.Leu694Ile | |
| XM_011518056.1:c.2080C>A | XP_011516358.1:p.Leu694Ile | |
| XR_242515.1:n.2101C>A | ||
| XM_005251619.3:c.2080C>A | XP_005251676.1:p.Leu694Ile | |
| XM_017015222.2:c.2080C>A | XP_016870711.1:p.Leu694Ile | |
| XM_017015223.1:c.1345-516C>A | XP_016870712.1:n.1345-516C>A | |
| XM_017015224.1:c.1345-516C>A | XP_016870713.1:n.1345-516C>A | |
| XR_001746390.1:n.2503C>A | ||
| XR_001746391.2:n.1366-516C>A | ||
| XR_242515.3:n.2101C>A | ||
| NM_032634.4:c.2080C>A MANE Select | NP_116023.2:p.Leu694Ile | |
| NM_001201484.2:c.1345-516C>A | NP_001188413.1:n.1345-516C>A | |
| NM_152850.4:c.1345-516C>A | NP_690577.2:n.1345-516C>A |