Linked Data
ClinVar Variation Id:
1614404
dbSNP Id:
rs757190448
ExAC:
5:148386573 A / G
gnomAD v2:
5-148386573-A-G
gnomAD v3:
5-149007010-A-G
gnomAD v4:
5-149007010-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149007010A>G , CM000667.2:g.149007010A>G | GRCh38 |
| NC_000005.9:g.148386573A>G , CM000667.1:g.148386573A>G | GRCh37 |
| NC_000005.8:g.148366766A>G | NCBI36 |
| NG_007947.2:g.61165T>C , LRG_269:g.61165T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.4399T>C | ||
| ENST00000515425.6:c.3546T>C MANE Select | ENSP00000423660.1:p.Tyr1182= | |
| ENST00000675793.1:c.*4603T>C | ENSP00000502039.1:n.*4603T>C | |
| ENST00000323829.9:c.*2934T>C | ENSP00000313025.5:n.*2934T>C | |
| ENST00000502274.1:c.132T>C | ENSP00000421092.1:p.Tyr44= | |
| ENST00000504517.5:c.3068T>C | ENSP00000421779.1:n.3068T>C | |
| ENST00000504690.5:c.3546T>C | ENSP00000425627.1:p.Tyr1182= | |
| ENST00000510350.1:n.102T>C | ||
| ENST00000510779.1:c.2596T>C | ||
| ENST00000512049.5:c.3525T>C | ENSP00000421860.1:p.Tyr1175= | |
| ENST00000515229.5:n.208T>C | ||
| ENST00000515425.5:c.3546T>C | ENSP00000423660.1:p.Tyr1182= | |
| NM_024577.3:c.3546T>C , LRG_269t1:c.3546T>C | NP_078853.2:p.Tyr1182= | |
| NM_024577.4:c.3546T>C MANE Select | NP_078853.2:p.Tyr1182= |