Linked Data
ClinVar Variation Id:
242519
dbSNP Id:
rs749544685
ExAC:
5:33944892 A / G
gnomAD v2:
5-33944892-A-G
gnomAD v3:
5-33944787-A-G
gnomAD v4:
5-33944787-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944787A>G , CM000667.2:g.33944787A>G | GRCh38 |
| NC_000005.9:g.33944892A>G , CM000667.1:g.33944892A>G | GRCh37 |
| NC_000005.8:g.33980649A>G | NCBI36 |
| NG_011691.2:g.44889T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296589.9:c.1454T>C MANE Select | ENSP00000296589.4:p.Leu485Pro | |
| ENST00000296589.8:c.1454T>C | ENSP00000296589.4:p.Leu485Pro | |
| NM_016180.4:c.1454T>C | NP_057264.3:p.Leu485Pro | |
| XM_011514051.1:c.1052T>C | XP_011512353.1:p.Leu351Pro | |
| NM_016180.5:c.1454T>C MANE Select | NP_057264.4:p.Leu485Pro |