Linked Data
ClinVar Variation Id:
701480
ClinVar RCV Id:
RCV000870046
dbSNP Id:
rs199569676
ExAC:
1:11217226 G / A
gnomAD v2:
1-11217226-G-A
gnomAD v3:
1-11157169-G-A
gnomAD v4:
1-11157169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11157169G>A , CM000663.2:g.11157169G>A | GRCh38 |
| NC_000001.10:g.11217226G>A , CM000663.1:g.11217226G>A | GRCh37 |
| NC_000001.9:g.11139813G>A | NCBI36 |
| NG_033239.1:g.110383C>T , LRG_734:g.110383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.4452C>T | ENSP00000515181.1:p.Leu1484= | |
| ENST00000703131.1:n.372C>T | ||
| ENST00000703140.1:c.4239C>T | ENSP00000515197.1:p.Leu1413= | |
| ENST00000703141.1:c.4452C>T | ENSP00000515198.1:p.Leu1484= | |
| ENST00000703142.1:c.*1282C>T | ENSP00000515199.1:n.*1282C>T | |
| ENST00000361445.9:c.4452C>T MANE Select | ENSP00000354558.4:p.Leu1484= | |
| ENST00000361445.8:c.4452C>T | ENSP00000354558.4:p.Leu1484= | |
| NM_004958.3:c.4452C>T , LRG_734t1:c.4452C>T | NP_004949.1:p.Leu1484= | |
| XM_005263438.1:c.4452C>T | XP_005263495.1:p.Leu1484= | |
| XM_011541166.1:c.4452C>T | XP_011539468.1:p.Leu1484= | |
| XR_244786.1:n.4573C>T | ||
| XM_005263438.2:c.4452C>T | XP_005263495.1:p.Leu1484= | |
| XM_011541166.2:c.4452C>T | XP_011539468.1:p.Leu1484= | |
| XM_017000900.1:c.3771C>T | XP_016856389.1:p.Leu1257= | |
| XM_017000901.1:c.3204C>T | XP_016856390.1:p.Leu1068= | |
| XM_024446187.1:c.4452C>T | XP_024301955.1:p.Leu1484= | |
| XR_001737087.1:n.4573C>T | ||
| NM_004958.4:c.4452C>T MANE Select | NP_004949.1:p.Leu1484= | |
| NM_001386500.1:c.4452C>T | NP_001373429.1:p.Leu1484= | |
| NM_001386501.1:c.3204C>T | NP_001373430.1:p.Leu1068= |