Linked Data
ClinVar Variation Id:
477392
dbSNP Id:
rs78949626
ExAC:
5:130498364 A / G
gnomAD v2:
5-130498364-A-G
gnomAD v3:
5-131162671-A-G
gnomAD v4:
5-131162671-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131162671A>G , CM000667.2:g.131162671A>G | GRCh38 |
| NC_000005.9:g.130498364A>G , CM000667.1:g.130498364A>G | GRCh37 |
| NC_000005.8:g.130526263A>G | NCBI36 |
| NG_032998.1:g.7678T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304043.10:c.117T>C MANE Select | ENSP00000304229.5:p.Leu39= | |
| ENST00000506207.2:n.242T>C | ||
| ENST00000506908.2:c.117T>C | ENSP00000426860.1:p.Leu39= | |
| ENST00000508488.2:c.117T>C | ENSP00000427499.1:p.Leu39= | |
| ENST00000511475.6:c.117T>C | ENSP00000427008.1:p.Leu39= | |
| ENST00000513012.2:c.152T>C | ENSP00000422444.1:p.Leu51Ser | |
| ENST00000513345.6:c.152T>C | ENSP00000421608.1:p.Leu51Ser | |
| ENST00000520028.2:c.117T>C | ENSP00000430909.2:p.Leu39= | |
| ENST00000675100.1:c.117T>C | ENSP00000502350.1:p.Leu39= | |
| ENST00000675135.1:n.476T>C | ||
| ENST00000675372.1:c.152T>C | ENSP00000502792.1:p.Leu51Ser | |
| ENST00000675491.1:c.117T>C | ENSP00000502370.1:p.Leu39= | |
| ENST00000676117.1:n.198T>C | ||
| ENST00000304043.9:c.117T>C | ENSP00000304229.5:p.Leu39= | |
| ENST00000504202.1:c.152T>C | ENSP00000425260.1:p.Leu51Ser | |
| ENST00000506207.1:n.136T>C | ||
| ENST00000506908.1:c.117T>C | ENSP00000426860.1:p.Leu39= | |
| ENST00000508488.1:c.117T>C | ENSP00000427499.1:p.Leu39= | |
| ENST00000508495.5:c.117T>C | ENSP00000424974.1:p.Leu39= | |
| ENST00000511475.5:c.117T>C | ENSP00000427008.1:p.Leu39= | |
| ENST00000513012.1:c.152T>C | ENSP00000422444.1:p.Leu51Ser | |
| ENST00000513345.5:c.152T>C | ENSP00000421608.1:p.Leu51Ser | |
| NM_005340.6:c.117T>C | NP_005331.1:p.Leu39= | |
| NR_024610.2:n.260T>C | ||
| NR_024611.2:n.295T>C | ||
| NR_073488.1:n.295T>C | ||
| XM_011543356.1:c.117T>C | XP_011541658.1:p.Leu39= | |
| NR_134494.1:n.260T>C | ||
| NR_134495.1:n.260T>C | ||
| NM_005340.7:c.117T>C MANE Select | NP_005331.1:p.Leu39= | |
| NR_024610.3:n.168T>C | ||
| NR_024611.3:n.203T>C | ||
| NR_073488.2:n.203T>C | ||
| NR_134494.2:n.168T>C | ||
| NR_134495.2:n.168T>C |