Linked Data
ClinVar Variation Id:
298145
ClinVar RCV Id:
RCV000269071
dbSNP Id:
rs756248885
ExAC:
1:92754666 G / A
gnomAD v2:
1-92754666-G-A
gnomAD v3:
1-92289109-G-A
gnomAD v4:
1-92289109-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92289109G>A , CM000663.2:g.92289109G>A | GRCh38 |
| NC_000001.10:g.92754666G>A , CM000663.1:g.92754666G>A | GRCh37 |
| NC_000001.9:g.92527254G>A | NCBI36 |
| NG_009796.1:g.14901C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370360.8:c.437C>T MANE Select | ENSP00000359385.3:p.Ala146Val | |
| ENST00000370360.7:c.437C>T | ENSP00000359385.3:p.Ala146Val | |
| ENST00000495106.5:c.437C>T | ENSP00000436829.1:p.Ala146Val | |
| NM_053274.2:c.437C>T | NP_444504.1:p.Ala146Val | |
| XM_005270400.1:c.437C>T | XP_005270457.1:p.Ala146Val | |
| XM_005270401.2:c.311C>T | XP_005270458.1:p.Ala104Val | |
| XM_006710309.1:c.-65C>T | XP_006710372.1:n.-65C>T | |
| XM_011540544.1:c.437C>T | XP_011538846.1:p.Ala146Val | |
| XM_011540545.1:c.437C>T | XP_011538847.1:p.Ala146Val | |
| XM_011540546.1:c.437C>T | XP_011538848.1:p.Ala146Val | |
| XR_946529.1:n.552C>T | ||
| NM_001319683.1:c.437C>T | NP_001306612.1:p.Ala146Val | |
| NR_135089.1:n.552C>T | ||
| XM_005270401.3:c.311C>T | XP_005270458.1:p.Ala104Val | |
| XM_006710309.2:c.-65C>T | XP_006710372.1:n.-65C>T | |
| XM_011540546.2:c.437C>T | XP_011538848.1:p.Ala146Val | |
| XM_017000137.1:c.536C>T | XP_016855626.1:p.Ala179Val | |
| XM_017000138.1:c.536C>T | XP_016855627.1:p.Ala179Val | |
| XM_017000139.1:c.536C>T | XP_016855628.1:p.Ala179Val | |
| XM_017000140.1:c.410C>T | XP_016855629.1:p.Ala137Val | |
| XM_017000141.1:c.437C>T | XP_016855630.1:p.Ala146Val | |
| XM_017000142.1:c.-65C>T | XP_016855631.1:n.-65C>T | |
| XM_017000143.1:c.-65C>T | XP_016855632.1:n.-65C>T | |
| XM_017000144.1:c.-232C>T | XP_016855633.1:n.-232C>T | |
| XR_002959248.1:n.920C>T | ||
| XR_002959249.1:n.552C>T | ||
| NM_053274.3:c.437C>T MANE Select | NP_444504.1:p.Ala146Val | |
| NM_001319683.2:c.437C>T | NP_001306612.1:p.Ala146Val | |
| NR_135089.2:n.530C>T |