Linked Data
ClinVar Variation Id:
1337779
ClinVar RCV Id:
RCV001822377
dbSNP Id:
rs766695794
ExAC:
17:7592301 G / A
gnomAD v2:
17-7592301-G-A
gnomAD v4:
17-7688983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7688983G>A , CM000679.2:g.7688983G>A | GRCh38 |
| NC_000017.10:g.7592301G>A , CM000679.1:g.7592301G>A | GRCh37 |
| NC_000017.9:g.7533026G>A | NCBI36 |
| NG_017013.2:g.3568C>T , LRG_321:g.3568C>T | |
| NG_028245.1:g.7913G>A , LRG_375:g.7913G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698742.1:c.335G>A | ENSP00000513904.1:p.Ser112Asn | |
| ENST00000698743.1:c.335G>A | ENSP00000513905.1:p.Ser112Asn | |
| ENST00000698744.1:c.335G>A | ENSP00000513906.1:p.Ser112Asn | |
| ENST00000698745.1:c.335G>A | ENSP00000513907.1:p.Ser112Asn | |
| ENST00000698746.1:c.335G>A | ENSP00000513908.1:p.Ser112Asn | |
| ENST00000396463.7:c.335G>A MANE Select | ENSP00000379727.3:p.Ser112Asn | |
| ENST00000316024.9:c.335G>A | ENSP00000324203.5:p.Ser112Asn | |
| ENST00000396463.6:c.335G>A | ENSP00000379727.2:p.Ser112Asn | |
| ENST00000431639.6:c.335G>A | ENSP00000397219.2:p.Ser112Asn | |
| ENST00000457584.6:c.335G>A | ENSP00000411061.2:p.Ser112Asn | |
| ENST00000467699.5:n.421G>A | ||
| ENST00000498311.5:c.335G>A | ENSP00000432991.1:p.Ser112Asn | |
| ENST00000534050.5:c.335G>A | ENSP00000434999.1:p.Ser112Asn | |
| NM_001143990.1:c.335G>A | NP_001137462.1:p.Ser112Asn | |
| NM_001143991.1:c.335G>A | NP_001137463.1:p.Ser112Asn | |
| NM_001143992.1:c.335G>A | NP_001137464.1:p.Ser112Asn | |
| NM_018081.2:c.335G>A , LRG_375t1:c.335G>A | NP_060551.2:p.Ser112Asn | |
| XM_011523952.2:c.-298G>A | XP_011522254.1:n.-298G>A | |
| XM_024450824.1:c.-1741G>A | XP_024306592.1:n.-1741G>A | |
| XM_024450825.1:c.335G>A | XP_024306593.1:p.Ser112Asn | |
| XR_001752551.2:n.580G>A | ||
| NM_001143991.2:c.335G>A | NP_001137463.1:p.Ser112Asn | |
| NM_001143992.2:c.335G>A MANE Select | NP_001137464.1:p.Ser112Asn | |
| NM_001143990.2:c.335G>A | NP_001137462.1:p.Ser112Asn |