Linked Data
ClinVar Variation Id:
354017
dbSNP Id:
rs561001438
ExAC:
5:60200628 A / G
gnomAD v2:
5-60200628-A-G
gnomAD v3:
5-60904801-A-G
gnomAD v4:
5-60904801-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60904801A>G , CM000667.2:g.60904801A>G | GRCh38 |
| NC_000005.9:g.60200628A>G , CM000667.1:g.60200628A>G | GRCh37 |
| NC_000005.8:g.60236385A>G | NCBI36 |
| NG_009289.1:g.45278T>C , LRG_466:g.45278T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.472T>C | ENSP00000408344.2:p.Leu158= | |
| ENST00000647431.2:c.573T>C | ENSP00000494726.2:n.573T>C | |
| ENST00000647486.2:c.472T>C | ENSP00000494466.2:p.Leu158= | |
| ENST00000675042.2:c.298T>C | ENSP00000502082.2:p.Leu100= | |
| ENST00000675452.2:c.*437T>C | ENSP00000506954.1:n.*437T>C | |
| ENST00000682217.1:c.472T>C | ENSP00000507570.1:p.Leu158= | |
| ENST00000682246.1:n.528T>C | ||
| ENST00000682375.1:c.*302T>C | ENSP00000507551.1:n.*302T>C | |
| ENST00000683052.1:c.274T>C | ENSP00000507072.1:p.Leu92= | |
| ENST00000683199.1:n.494T>C | ||
| ENST00000683216.1:n.737T>C | ||
| ENST00000683460.1:c.*302T>C | ENSP00000507820.1:n.*302T>C | |
| ENST00000684394.1:n.527T>C | ||
| ENST00000684453.1:n.522T>C | ||
| ENST00000684621.1:n.528T>C | ||
| ENST00000265038.10:c.472T>C | ENSP00000265038.6:p.Leu158= | |
| ENST00000497892.6:c.*270T>C | ENSP00000501805.1:n.*270T>C | |
| ENST00000643034.1:c.*364T>C | ENSP00000496080.1:n.*364T>C | |
| ENST00000643708.1:c.*302T>C | ENSP00000494199.1:n.*302T>C | |
| ENST00000647431.1:c.524T>C | ||
| ENST00000647486.1:c.423T>C | ||
| ENST00000675042.1:c.298T>C | ENSP00000502082.1:p.Leu100= | |
| ENST00000675229.1:c.472T>C | ENSP00000502154.1:p.Leu158= | |
| ENST00000675378.1:c.472T>C | ENSP00000502535.1:p.Leu158= | |
| ENST00000675452.1:n.721T>C | ||
| ENST00000675920.1:n.1080T>C | ||
| ENST00000676185.1:c.472T>C MANE Select | ENSP00000501614.1:p.Leu158= | |
| ENST00000265038.9:c.472T>C | ENSP00000265038.5:p.Leu158= | |
| ENST00000381118.7:c.*516T>C | ENSP00000370510.3:n.*516T>C | |
| ENST00000439176.5:c.298T>C | ENSP00000408344.1:p.Leu100= | |
| ENST00000462279.5:n.317T>C | ||
| ENST00000484330.5:n.227-2293T>C | ||
| ENST00000495985.5:n.245T>C | ||
| ENST00000497892.5:n.515T>C | ||
| NM_000082.3:c.472T>C , LRG_466t1:c.472T>C | NP_000073.1:p.Leu158= | |
| NM_001007233.2:c.298T>C | NP_001007234.1:p.Leu100= | |
| NM_001007234.2:c.472T>C | NP_001007235.1:p.Leu158= | |
| NM_001290285.1:c.23-1085T>C | NP_001277214.1:n.23-1085T>C | |
| NM_001007234.3:c.472T>C | NP_001007235.1:p.Leu158= | |
| NM_000082.4:c.472T>C MANE Select | NP_000073.1:p.Leu158= | |
| NM_001007233.3:c.298T>C | NP_001007234.1:p.Leu100= | |
| NM_001290285.2:c.23-1085T>C | NP_001277214.1:n.23-1085T>C |