Linked Data
ClinVar Variation Id:
259207
dbSNP Id:
rs35538044
ExAC:
15:77328255 G / A
gnomAD v2:
15-77328255-G-A
gnomAD v3:
15-77035914-G-A
gnomAD v4:
15-77035914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77035914G>A , CM000677.2:g.77035914G>A | GRCh38 |
| NC_000015.9:g.77328255G>A , CM000677.1:g.77328255G>A | GRCh37 |
| NC_000015.8:g.75115310G>A | NCBI36 |
| NG_007526.1:g.45791G>A , LRG_172:g.45791G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.2264G>A | ||
| ENST00000697623.1:n.2517G>A | ||
| ENST00000558012.6:c.1098G>A MANE Select | ENSP00000452746.1:p.Ala366= | |
| ENST00000379595.7:c.1089G>A | ENSP00000368914.3:p.Ala363= | |
| ENST00000557995.1:n.762G>A | ||
| ENST00000558012.5:c.1098G>A | ENSP00000452746.1:p.Ala366= | |
| ENST00000558870.1:c.247G>A | ||
| ENST00000559295.5:c.1041G>A | ENSP00000452743.1:p.Ala347= | |
| ENST00000559785.5:c.*73G>A | ENSP00000452986.1:n.*73G>A | |
| ENST00000560064.1:n.221G>A | ||
| ENST00000560223.5:c.*1200G>A | ENSP00000454118.1:n.*1200G>A | |
| NM_003978.3:c.1098G>A , LRG_172t1:c.1098G>A | NP_003969.2:p.Ala366= | |
| XM_006720737.2:c.732G>A | XP_006720800.1:p.Ala244= | |
| XM_011522163.1:c.1146G>A | XP_011520465.1:p.Ala382= | |
| XM_011522164.1:c.1053G>A | XP_011520466.1:p.Ala351= | |
| XM_011522165.1:c.951G>A | XP_011520467.1:p.Ala317= | |
| XM_011522168.1:c.1155G>A | XP_011520470.1:p.Ala385= | |
| XM_011522170.1:c.540G>A | XP_011520472.1:p.Ala180= | |
| XM_011522171.1:c.480G>A | XP_011520473.1:p.Ala160= | |
| XM_011522172.1:c.480G>A | XP_011520474.1:p.Ala160= | |
| XM_011522173.1:c.480G>A | XP_011520475.1:p.Ala160= | |
| XR_931936.1:n.1639G>A | ||
| XR_931937.1:n.1582G>A | ||
| XR_931938.1:n.1514G>A | ||
| XR_931939.1:n.1417G>A | ||
| XR_931940.1:n.1238G>A | ||
| NM_001321135.1:c.1041G>A | NP_001308064.1:p.Ala347= | |
| NM_001321136.1:c.1071G>A | NP_001308065.1:p.Ala357= | |
| NM_001321137.1:c.1293G>A | NP_001308066.1:p.Ala431= | |
| NM_003978.4:c.1098G>A | NP_003969.2:p.Ala366= | |
| NR_135552.1:n.1319G>A | ||
| XM_006720737.3:c.732G>A | XP_006720800.1:p.Ala244= | |
| XM_011522163.2:c.1146G>A | XP_011520465.1:p.Ala382= | |
| XM_011522165.2:c.951G>A | XP_011520467.1:p.Ala317= | |
| XM_011522168.3:c.1155G>A | XP_011520470.1:p.Ala385= | |
| XR_931936.2:n.1637G>A | ||
| XR_931937.2:n.1580G>A | ||
| XR_931938.2:n.1512G>A | ||
| XR_931939.2:n.1415G>A | ||
| NM_001321135.2:c.1041G>A | NP_001308064.1:p.Ala347= | |
| NM_001321136.2:c.1071G>A | NP_001308065.1:p.Ala357= | |
| NM_003978.5:c.1098G>A MANE Select | NP_003969.2:p.Ala366= | |
| NR_135552.2:n.1278G>A |