Linked Data
ClinVar Variation Id:
349006
dbSNP Id:
rs199975696
ExAC:
4:56212613 C / T
gnomAD v2:
4-56212613-C-T
gnomAD v3:
4-55346446-C-T
gnomAD v4:
4-55346446-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346446C>T , CM000666.2:g.55346446C>T | GRCh38 |
| NC_000004.11:g.56212613C>T , CM000666.1:g.56212613C>T | GRCh37 |
| NC_000004.10:g.55907370C>T | NCBI36 |
| NG_028230.1:g.5226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.110C>T MANE Select | ENSP00000264228.4:p.Pro37Leu | |
| ENST00000679351.1:c.110C>T | ENSP00000505676.1:p.Pro37Leu | |
| ENST00000679707.1:c.110C>T | ENSP00000505713.1:p.Pro37Leu | |
| ENST00000679836.1:c.110C>T | ENSP00000506601.1:p.Pro37Leu | |
| ENST00000680700.1:c.110C>T | ENSP00000504926.1:p.Pro37Leu | |
| ENST00000264228.8:c.110C>T | ENSP00000264228.4:p.Pro37Leu | |
| ENST00000505210.1:c.35C>T | ENSP00000424714.1:p.Pro12Leu | |
| NM_024592.4:c.110C>T | NP_078868.1:p.Pro37Leu | |
| XM_005265766.2:c.110C>T | XP_005265823.1:p.Pro37Leu | |
| XM_005265767.2:c.110C>T | XP_005265824.1:p.Pro37Leu | |
| XM_005265766.4:c.110C>T | XP_005265823.1:p.Pro37Leu | |
| XM_005265767.3:c.110C>T | XP_005265824.1:p.Pro37Leu | |
| NM_024592.5:c.110C>T MANE Select | NP_078868.1:p.Pro37Leu |