Linked Data
ClinVar Variation Id:
1617313
ClinVar RCV Id:
RCV002076509
dbSNP Id:
rs375188207
ExAC:
1:40558159 A / G
gnomAD v2:
1-40558159-A-G
gnomAD v3:
1-40092487-A-G
gnomAD v4:
1-40092487-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092487A>G , CM000663.2:g.40092487A>G | GRCh38 |
| NC_000001.10:g.40558159A>G , CM000663.1:g.40558159A>G | GRCh37 |
| NC_000001.9:g.40330746A>G | NCBI36 |
| NG_009192.1:g.9984T>C , LRG_690:g.9984T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.149T>C | ENSP00000361865.5:p.Leu50Pro | |
| ENST00000433473.8:c.142T>C | ENSP00000394863.4:p.Leu48= | |
| ENST00000439754.6:c.145T>C | ENSP00000403207.2:p.Leu49= | |
| ENST00000449045.7:c.125-2975T>C | ENSP00000392293.2:n.125-2975T>C | |
| ENST00000526547.2:c.425T>C | ||
| ENST00000527311.7:c.145T>C | ENSP00000436695.3:p.Leu49= | |
| ENST00000530704.6:c.145T>C | ENSP00000431655.1:p.Leu49= | |
| ENST00000641083.1:c.123T>C | ||
| ENST00000641236.1:n.157T>C | ||
| ENST00000641319.1:c.145T>C | ENSP00000493128.1:p.Leu49= | |
| ENST00000641471.1:c.232T>C | ENSP00000493146.1:p.Leu78= | |
| ENST00000641548.1:c.138T>C | ENSP00000492984.1:p.Pro46= | |
| ENST00000641691.1:c.138T>C | ENSP00000492910.1:p.Pro46= | |
| ENST00000641924.1:c.124+4628T>C | ENSP00000493063.1:n.124+4628T>C | |
| ENST00000642050.2:c.145T>C MANE Select | ENSP00000493153.1:p.Leu49= | |
| ENST00000372779.8:c.232T>C | ENSP00000361865.4:p.Leu78= | |
| ENST00000433473.7:c.145T>C | ENSP00000394863.3:p.Leu49= | |
| ENST00000449045.6:c.125-2975T>C | ENSP00000392293.2:n.125-2975T>C | |
| ENST00000526547.1:c.-6T>C | ENSP00000436481.1:n.-6T>C | |
| ENST00000527311.6:c.125-430T>C | ENSP00000436695.2:n.125-430T>C | |
| ENST00000529905.5:c.145T>C | ENSP00000432053.1:p.Leu49= | |
| ENST00000530704.5:c.145T>C | ENSP00000431655.1:p.Leu49= | |
| NM_000310.3:c.145T>C , LRG_690t1:c.145T>C | NP_000301.1:p.Leu49= | |
| NM_001142604.1:c.125-2975T>C | NP_001136076.1:n.125-2975T>C | |
| XM_005271008.1:c.145T>C | XP_005271065.1:p.Leu49= | |
| NM_001363695.1:c.145T>C | NP_001350624.1:p.Leu49= | |
| NM_000310.4:c.145T>C MANE Select | NP_000301.1:p.Leu49= | |
| NM_001142604.2:c.125-2975T>C | NP_001136076.1:n.125-2975T>C | |
| NM_001363695.2:c.145T>C | NP_001350624.1:p.Leu49= |