Linked Data
ClinVar Variation Id:
431947
dbSNP Id:
rs1553187939
gnomAD v3:
1-94014676-G-A
gnomAD v4:
1-94014676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94014676G>A , CM000663.2:g.94014676G>A | GRCh38 |
| NC_000001.10:g.94480232G>A , CM000663.1:g.94480232G>A | GRCh37 |
| NC_000001.9:g.94252820G>A | NCBI36 |
| NG_009073.1:g.111474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5327C>T MANE Select | ENSP00000359245.3:p.Pro1776Leu | |
| ENST00000370225.3:c.5327C>T | ENSP00000359245.3:p.Pro1776Leu | |
| ENST00000536513.5:c.1703C>T | ENSP00000439707.2:p.Pro568Leu | |
| NM_000350.2:c.5327C>T | NP_000341.2:p.Pro1776Leu | |
| NM_000350.3:c.5327C>T MANE Select | NP_000341.2:p.Pro1776Leu |