Linked Data
ClinVar Variation Id:
719981
dbSNP Id:
rs143938936
ExAC:
17:40695425 A / G
gnomAD v2:
17-40695425-A-G
gnomAD v3:
17-42543407-A-G
gnomAD v4:
17-42543407-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543407A>G , CM000679.2:g.42543407A>G | GRCh38 |
| NC_000017.10:g.40695425A>G , CM000679.1:g.40695425A>G | GRCh37 |
| NC_000017.9:g.37948951A>G | NCBI36 |
| NG_011552.1:g.12475A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1401A>G MANE Select | ENSP00000225927.1:p.Pro467= | |
| ENST00000225927.6:c.1401A>G | ENSP00000225927.1:p.Pro467= | |
| ENST00000591587.1:c.739A>G | ENSP00000467836.1:n.739A>G | |
| ENST00000592454.1:c.440A>G | ||
| NM_000263.3:c.1401A>G | NP_000254.2:p.Pro467= | |
| XM_006721920.2:c.570A>G | XP_006721983.1:p.Pro190= | |
| XM_011524840.1:c.402A>G | XP_011523142.1:p.Pro134= | |
| XM_017024687.1:c.570A>G | XP_016880176.1:p.Pro190= | |
| XM_024450771.1:c.1458A>G | XP_024306539.1:p.Pro486= | |
| XM_024450772.1:c.402A>G | XP_024306540.1:p.Pro134= | |
| NM_000263.4:c.1401A>G MANE Select | NP_000254.2:p.Pro467= |