Linked Data
dbSNP Id:
rs761991438
ExAC:
6:52344498 G / A
gnomAD v2:
6-52344498-G-A
gnomAD v3:
6-52479700-G-A
gnomAD v4:
6-52479700-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479700G>A , CM000668.2:g.52479700G>A | GRCh38 |
| NC_000006.11:g.52344498G>A , CM000668.1:g.52344498G>A | GRCh37 |
| NC_000006.10:g.52452457G>A | NCBI36 |
| NG_016760.1:g.64505G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1553G>A MANE Select | ENSP00000360107.4:p.Ser518Asn | |
| ENST00000480623.6:c.1553G>A | ENSP00000434498.2:p.Ser518Asn | |
| ENST00000635760.1:c.1229G>A | ENSP00000489765.1:p.Ser410Asn | |
| ENST00000635812.1:c.*854G>A | ENSP00000490859.1:n.*854G>A | |
| ENST00000635866.1:c.*1422G>A | ENSP00000489866.1:n.*1422G>A | |
| ENST00000635911.1:n.3071G>A | ||
| ENST00000635984.1:c.1229G>A | ENSP00000489921.1:p.Ser410Asn | |
| ENST00000635996.1:c.1553G>A | ENSP00000490256.1:p.Ser518Asn | |
| ENST00000636107.1:c.1553G>A | ENSP00000489680.1:p.Ser518Asn | |
| ENST00000636311.1:n.1447G>A | ||
| ENST00000636343.1:c.1219G>A | ||
| ENST00000636379.1:c.1265G>A | ENSP00000490622.1:p.Ser422Asn | |
| ENST00000636398.1:c.1253G>A | ENSP00000489654.1:n.1253G>A | |
| ENST00000636489.1:c.1496G>A | ENSP00000489998.1:p.Ser499Asn | |
| ENST00000636616.1:n.1114G>A | ||
| ENST00000636702.1:c.1523G>A | ENSP00000489623.1:p.Ser508Asn | |
| ENST00000636954.1:c.1496G>A | ENSP00000489966.1:p.Ser499Asn | |
| ENST00000637089.1:c.1553G>A | ENSP00000489854.1:p.Ser518Asn | |
| ENST00000637121.1:n.1355G>A | ||
| ENST00000637263.1:c.1553G>A | ENSP00000489700.1:p.Ser518Asn | |
| ENST00000637340.1:n.3478G>A | ||
| ENST00000637353.1:c.1553G>A | ENSP00000490441.1:p.Ser518Asn | |
| ENST00000637602.1:c.*1254G>A | ENSP00000490074.1:n.*1254G>A | |
| ENST00000637849.1:n.1617G>A | ||
| ENST00000637892.1:n.1757G>A | ||
| ENST00000371068.9:c.1553G>A | ENSP00000360107.4:p.Ser518Asn | |
| ENST00000480623.5:c.*1973G>A | ENSP00000434498.1:n.*1973G>A | |
| ENST00000538167.2:c.1496G>A | ENSP00000444521.1:p.Ser499Asn | |
| NM_001172420.1:c.1496G>A | NP_001165891.1:p.Ser499Asn | |
| NM_018100.3:c.1553G>A | NP_060570.2:p.Ser518Asn | |
| NR_033327.1:n.3025G>A | ||
| NM_018100.4:c.1553G>A MANE Select | NP_060570.2:p.Ser518Asn | |
| NM_001172420.2:c.1496G>A | NP_001165891.1:p.Ser499Asn | |
| NR_033327.2:n.2879G>A |