Linked Data
ClinVar Variation Id:
360866
dbSNP Id:
rs148980420
gnomAD v2:
7-91828687-A-C
gnomAD v3:
7-92199373-A-C
gnomAD v4:
7-92199373-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92199373A>C , CM000669.2:g.92199373A>C | GRCh38 |
| NC_000007.13:g.91828687A>C , CM000669.1:g.91828687A>C | GRCh37 |
| NC_000007.12:g.91666623A>C | NCBI36 |
| NG_012964.1:g.51728T>G , LRG_650:g.51728T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000458493.6:c.2025+13822T>G | ENSP00000396352.2:n.2025+13822T>G | |
| ENST00000650585.2:c.2025+13822T>G | ENSP00000498010.2:n.2025+13822T>G | |
| ENST00000688180.1:n.2626T>G | ||
| ENST00000691972.1:c.2025+13822T>G | ENSP00000510591.1:n.2025+13822T>G | |
| ENST00000692281.1:c.2025+13822T>G | ENSP00000510568.1:n.2025+13822T>G | |
| ENST00000692807.1:c.*1363T>G | ENSP00000508564.1:n.*1363T>G | |
| ENST00000693096.1:n.4281+13822T>G | ||
| ENST00000458177.6:c.*1363T>G | ENSP00000391675.2:n.*1363T>G | |
| ENST00000650585.1:c.2025+13822T>G | ENSP00000498010.1:n.2025+13822T>G | |
| ENST00000394507.5:c.*1363T>G | ENSP00000378015.1:n.*1363T>G | |
| NM_001013406.1:c.*1363T>G | NP_001013424.1:n.*1363T>G | |
| NM_004912.3:c.*1363T>G | NP_004903.2:n.*1363T>G | |
| NM_194454.1:c.*1363T>G | NP_919436.1:n.*1363T>G | |
| NM_194455.1:c.*1363T>G | NP_919437.1:n.*1363T>G | |
| NM_194456.1:c.*1363T>G , LRG_650t1:c.*1363T>G | NP_919438.1:n.*1363T>G | |
| NM_001013406.2:c.*1363T>G | NP_001013424.1:n.*1363T>G | |
| NM_001350669.1:c.*1363T>G | NP_001337598.1:n.*1363T>G | |
| NM_001350670.1:c.*1363T>G | NP_001337599.1:n.*1363T>G | |
| NM_001350671.1:c.*1363T>G | NP_001337600.1:n.*1363T>G | |
| NM_001350672.1:c.*1363T>G | NP_001337601.1:n.*1363T>G | |
| NM_001350673.1:c.*1363T>G | NP_001337602.1:n.*1363T>G | |
| NM_001350674.1:c.*1363T>G | NP_001337603.1:n.*1363T>G | |
| NM_001350675.1:c.*1363T>G | NP_001337604.1:n.*1363T>G | |
| NM_001350676.1:c.*1363T>G | NP_001337605.1:n.*1363T>G | |
| NM_001350677.1:c.*1363T>G | NP_001337606.1:n.*1363T>G | |
| NM_001350678.1:c.*1363T>G | NP_001337607.1:n.*1363T>G | |
| NM_001350679.1:c.*1363T>G | NP_001337608.1:n.*1363T>G | |
| NM_001350680.1:c.*1363T>G | NP_001337609.1:n.*1363T>G | |
| NM_001350681.1:c.*1363T>G | NP_001337610.1:n.*1363T>G | |
| NM_001350682.1:c.*1363T>G | NP_001337611.1:n.*1363T>G | |
| NM_001350683.1:c.*1363T>G | NP_001337612.1:n.*1363T>G | |
| NM_001350684.1:c.*1363T>G | NP_001337613.1:n.*1363T>G | |
| NM_001350685.1:c.*1363T>G | NP_001337614.1:n.*1363T>G | |
| NM_001350686.1:c.*1363T>G | NP_001337615.1:n.*1363T>G | |
| NM_001350687.1:c.*1363T>G | NP_001337616.1:n.*1363T>G | |
| NM_001350688.1:c.*1363T>G | NP_001337617.1:n.*1363T>G | |
| NM_001350689.1:c.*1363T>G | NP_001337618.1:n.*1363T>G | |
| NM_001350690.1:c.*1363T>G | NP_001337619.1:n.*1363T>G | |
| NM_001350691.1:c.*1363T>G | NP_001337620.1:n.*1363T>G | |
| NM_001350692.1:c.*1363T>G | NP_001337621.1:n.*1363T>G | |
| NM_001350693.1:c.*1363T>G | NP_001337622.1:n.*1363T>G | |
| NM_001350694.1:c.*1363T>G | NP_001337623.1:n.*1363T>G | |
| NM_001350695.1:c.*1363T>G | NP_001337624.1:n.*1363T>G | |
| NM_001350696.1:c.*1363T>G | NP_001337625.1:n.*1363T>G | |
| NM_001350697.1:c.*1363T>G | NP_001337626.1:n.*1363T>G | |
| NM_004912.4:c.*1363T>G | NP_004903.2:n.*1363T>G | |
| NM_194454.2:c.*1363T>G | NP_919436.1:n.*1363T>G |