Linked Data
ClinVar Variation Id:
204826
dbSNP Id:
rs796052255
gnomAD v3:
5-126595176-A-G
gnomAD v4:
5-126595176-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126595176A>G , CM000667.2:g.126595176A>G | GRCh38 |
| NC_000005.9:g.125930868A>G , CM000667.1:g.125930868A>G | GRCh37 |
| NC_000005.8:g.125958767A>G | NCBI36 |
| NG_008600.2:g.5215T>C | |
| NG_008600.3:g.5215T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.23T>C MANE Select | ENSP00000387123.3:p.Leu8Pro | |
| ENST00000412186.2:c.23T>C | ENSP00000414536.2:p.Leu8Pro | |
| ENST00000413020.6:c.23T>C | ENSP00000487936.1:p.Leu8Pro | |
| ENST00000458249.6:c.23T>C | ENSP00000403929.1:p.Leu8Pro | |
| ENST00000509270.2:c.23T>C | ENSP00000449318.2:p.Leu8Pro | |
| ENST00000635851.1:c.21T>C | ||
| ENST00000635933.1:n.52T>C | ||
| ENST00000636225.1:c.23T>C | ENSP00000490797.1:p.Leu8Pro | |
| ENST00000636743.1:c.23T>C | ENSP00000489725.1:p.Leu8Pro | |
| ENST00000636808.1:c.23T>C | ENSP00000490833.1:p.Leu8Pro | |
| ENST00000636872.1:c.23T>C | ENSP00000490919.1:p.Leu8Pro | |
| ENST00000636879.1:c.23T>C | ENSP00000490811.1:p.Leu8Pro | |
| ENST00000636886.1:c.23T>C | ENSP00000490371.1:p.Leu8Pro | |
| ENST00000637206.1:c.23T>C | ENSP00000489895.1:p.Leu8Pro | |
| ENST00000637272.1:c.23T>C | ENSP00000489686.1:p.Leu8Pro | |
| ENST00000637782.1:c.23T>C | ENSP00000490024.1:p.Leu8Pro | |
| ENST00000637964.1:c.23T>C | ENSP00000490291.1:p.Leu8Pro | |
| ENST00000638008.1:c.23T>C | ENSP00000490400.1:p.Leu8Pro | |
| ENST00000409134.7:c.23T>C | ENSP00000387123.3:p.Leu8Pro | |
| ENST00000412186.1:c.23T>C | ENSP00000414536.1:p.Leu8Pro | |
| ENST00000413020.5:c.23T>C | ENSP00000487936.1:p.Leu8Pro | |
| ENST00000447989.6:c.104T>C | ENSP00000414132.2:p.Leu35Pro | |
| ENST00000458249.5:c.23T>C | ENSP00000403929.1:p.Leu8Pro | |
| ENST00000509270.1:c.23T>C | ENSP00000449318.1:p.Leu8Pro | |
| ENST00000510111.6:c.17T>C | ENSP00000447388.1:p.Leu6Pro | |
| ENST00000553117.5:c.23T>C | ENSP00000448593.1:p.Leu8Pro | |
| NM_001182.4:c.23T>C | NP_001173.2:p.Leu8Pro | |
| NM_001201377.1:c.-62T>C | NP_001188306.1:n.-62T>C | |
| NM_001202404.1:c.104T>C | NP_001189333.1:p.Leu35Pro | |
| NM_001182.5:c.23T>C MANE Select | NP_001173.2:p.Leu8Pro | |
| NM_001201377.2:c.-62T>C | NP_001188306.1:n.-62T>C | |
| NM_001202404.2:c.23T>C | NP_001189333.2:p.Leu8Pro |