Linked Data
dbSNP Id:
rs765707190
ExAC:
1:94528184 G / A
gnomAD v2:
1-94528184-G-A
gnomAD v3:
1-94062628-G-A
gnomAD v4:
1-94062628-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062628G>A , CM000663.2:g.94062628G>A | GRCh38 |
| NC_000001.10:g.94528184G>A , CM000663.1:g.94528184G>A | GRCh37 |
| NC_000001.9:g.94300772G>A | NCBI36 |
| NG_009073.1:g.63522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1886C>T MANE Select | ENSP00000359245.3:p.Pro629Leu | |
| ENST00000649773.1:c.1886C>T | ENSP00000496882.1:p.Pro629Leu | |
| ENST00000370225.3:c.1886C>T | ENSP00000359245.3:p.Pro629Leu | |
| ENST00000536513.5:c.-65+546C>T | ENSP00000439707.2:n.-65+546C>T | |
| NM_000350.2:c.1886C>T | NP_000341.2:p.Pro629Leu | |
| NM_000350.3:c.1886C>T MANE Select | NP_000341.2:p.Pro629Leu |