Linked Data
ClinVar Variation Id:
427855
dbSNP Id:
rs1305542291
gnomAD v2:
15-76673768-C-T
gnomAD v3:
15-76381427-C-T
gnomAD v4:
15-76381427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76381427C>T , CM000677.2:g.76381427C>T | GRCh38 |
| NC_000015.9:g.76673768C>T , CM000677.1:g.76673768C>T | GRCh37 |
| NC_000015.8:g.74460823C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563290.6:c.3656G>A MANE Select | ENSP00000454973.1:p.Ser1219Asn | |
| ENST00000303521.10:n.3720G>A | ||
| ENST00000324767.11:c.3656G>A | ENSP00000326924.7:p.Ser1219Asn | |
| ENST00000538941.6:c.2918G>A | ENSP00000442190.2:p.Ser973Asn | |
| ENST00000563290.5:c.3656G>A | ENSP00000454973.1:p.Ser1219Asn | |
| NM_001145923.1:c.2918G>A | NP_001139395.1:p.Ser973Asn | |
| NM_020843.2:c.3656G>A | NP_065894.2:p.Ser1219Asn | |
| XM_005254417.2:c.3674G>A | XP_005254474.1:p.Ser1225Asn | |
| XM_005254419.2:c.3656G>A | XP_005254476.1:p.Ser1219Asn | |
| XM_011521648.1:c.3830G>A | XP_011519950.1:p.Ser1277Asn | |
| XM_011521649.1:c.3812G>A | XP_011519951.1:p.Ser1271Asn | |
| XM_011521650.1:c.3674G>A | XP_011519952.1:p.Ser1225Asn | |
| XM_011521651.1:c.3674G>A | XP_011519953.1:p.Ser1225Asn | |
| XM_011521652.1:c.3626G>A | XP_011519954.1:p.Ser1209Asn | |
| XM_011521653.1:c.3272G>A | XP_011519955.1:p.Ser1091Asn | |
| XM_011521654.1:c.2936G>A | XP_011519956.1:p.Ser979Asn | |
| XM_011521656.1:c.1814G>A | XP_011519958.1:p.Ser605Asn | |
| NM_001353009.1:c.3674G>A | NP_001339938.1:p.Ser1225Asn | |
| NM_001353010.1:c.3254G>A | NP_001339939.1:p.Ser1085Asn | |
| NM_001353011.1:c.3272G>A | NP_001339940.1:p.Ser1091Asn | |
| NM_001353012.1:c.3254G>A | NP_001339941.1:p.Ser1085Asn | |
| NM_020843.3:c.3656G>A | NP_065894.2:p.Ser1219Asn | |
| NR_148227.1:n.3981G>A | ||
| XM_011521653.3:c.3272G>A | XP_011519955.1:p.Ser1091Asn | |
| XM_011521656.3:c.1814G>A | XP_011519958.1:p.Ser605Asn | |
| XM_017022268.1:c.3674G>A | XP_016877757.1:p.Ser1225Asn | |
| XM_017022269.1:c.3656G>A | XP_016877758.1:p.Ser1219Asn | |
| XM_017022270.1:c.3656G>A | XP_016877759.1:p.Ser1219Asn | |
| XM_017022272.1:c.3518G>A | XP_016877761.1:p.Ser1173Asn | |
| XM_017022273.1:c.3254G>A | XP_016877762.1:p.Ser1085Asn | |
| XM_017022275.2:c.2831G>A | XP_016877764.1:p.Ser944Asn | |
| XM_017022276.1:c.2831G>A | XP_016877765.1:p.Ser944Asn | |
| XM_017022277.2:c.2813G>A | XP_016877766.1:p.Ser938Asn | |
| XM_017022278.2:c.2813G>A | XP_016877767.1:p.Ser938Asn | |
| XM_024449938.1:c.2936G>A | XP_024305706.1:p.Ser979Asn | |
| XM_024449939.1:c.2918G>A | XP_024305707.1:p.Ser973Asn | |
| XR_002957646.1:n.3593G>A | ||
| NM_020843.4:c.3656G>A MANE Select | NP_065894.2:p.Ser1219Asn | |
| NM_001353009.2:c.3674G>A | NP_001339938.1:p.Ser1225Asn | |
| NM_001353010.2:c.3254G>A | NP_001339939.1:p.Ser1085Asn | |
| NM_001353011.2:c.3272G>A | NP_001339940.1:p.Ser1091Asn | |
| NM_001353012.2:c.3254G>A | NP_001339941.1:p.Ser1085Asn | |
| NR_148227.2:n.3864G>A | ||
| NM_001145923.2:c.2918G>A | NP_001139395.1:p.Ser973Asn |