Linked Data
ClinVar Variation Id:
317181
dbSNP Id:
rs377437961
ExAC:
15:77325220 A / G
gnomAD v2:
15-77325220-A-G
gnomAD v3:
15-77032879-A-G
gnomAD v4:
15-77032879-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032879A>G , CM000677.2:g.77032879A>G | GRCh38 |
| NC_000015.9:g.77325220A>G , CM000677.1:g.77325220A>G | GRCh37 |
| NC_000015.8:g.75112275A>G | NCBI36 |
| NG_007526.1:g.42756A>G , LRG_172:g.42756A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.2022A>G | ||
| ENST00000697623.1:n.2275A>G | ||
| ENST00000558012.6:c.856A>G MANE Select | ENSP00000452746.1:p.Asn286Asp | |
| ENST00000379595.7:c.856A>G | ENSP00000368914.3:p.Asn286Asp | |
| ENST00000557995.1:n.520A>G | ||
| ENST00000558012.5:c.856A>G | ENSP00000452746.1:p.Asn286Asp | |
| ENST00000558870.1:c.78+485A>G | ||
| ENST00000559295.5:c.872+451A>G | ENSP00000452743.1:n.872+451A>G | |
| ENST00000559785.5:c.1085A>G | ENSP00000452986.1:p.Glu362Gly | |
| ENST00000560223.5:c.*958A>G | ENSP00000454118.1:n.*958A>G | |
| NM_003978.3:c.856A>G , LRG_172t1:c.856A>G | NP_003969.2:p.Asn286Asp | |
| XM_006720737.2:c.490A>G | XP_006720800.1:p.Asn164Asp | |
| XM_011522163.1:c.913A>G | XP_011520465.1:p.Asn305Asp | |
| XM_011522164.1:c.811A>G | XP_011520466.1:p.Asn271Asp | |
| XM_011522165.1:c.709A>G | XP_011520467.1:p.Asn237Asp | |
| XM_011522166.1:c.947A>G | XP_011520468.1:p.Glu316Gly | |
| XM_011522167.1:c.895+485A>G | XP_011520469.1:n.895+485A>G | |
| XM_011522168.1:c.913A>G | XP_011520470.1:p.Asn305Asp | |
| XM_011522169.1:c.798+1601A>G | XP_011520471.1:n.798+1601A>G | |
| XM_011522170.1:c.372-2629A>G | XP_011520472.1:n.372-2629A>G | |
| XM_011522171.1:c.312-2629A>G | XP_011520473.1:n.312-2629A>G | |
| XM_011522172.1:c.312-2629A>G | XP_011520474.1:n.312-2629A>G | |
| XM_011522173.1:c.312-2629A>G | XP_011520475.1:n.312-2629A>G | |
| XR_931936.1:n.1397A>G | ||
| XR_931937.1:n.1340A>G | ||
| XR_931938.1:n.1345+485A>G | ||
| XR_931939.1:n.1248+1601A>G | ||
| XR_931940.1:n.1070-2629A>G | ||
| NM_001321135.1:c.872+451A>G | NP_001308064.1:n.872+451A>G | |
| NM_001321136.1:c.829A>G | NP_001308065.1:p.Asn277Asp | |
| NM_001321137.1:c.1051A>G | NP_001308066.1:p.Asn351Asp | |
| NM_003978.4:c.856A>G | NP_003969.2:p.Asn286Asp | |
| NR_135552.1:n.1150+1601A>G | ||
| XM_006720737.3:c.490A>G | XP_006720800.1:p.Asn164Asp | |
| XM_011522163.2:c.913A>G | XP_011520465.1:p.Asn305Asp | |
| XM_011522165.2:c.709A>G | XP_011520467.1:p.Asn237Asp | |
| XM_011522166.2:c.947A>G | XP_011520468.1:p.Glu316Gly | |
| XM_011522167.2:c.895+485A>G | XP_011520469.1:n.895+485A>G | |
| XM_011522168.3:c.913A>G | XP_011520470.1:p.Asn305Asp | |
| XM_011522169.2:c.798+1601A>G | XP_011520471.1:n.798+1601A>G | |
| XR_931936.2:n.1395A>G | ||
| XR_931937.2:n.1338A>G | ||
| XR_931938.2:n.1343+485A>G | ||
| XR_931939.2:n.1246+1601A>G | ||
| NM_001321135.2:c.872+451A>G | NP_001308064.1:n.872+451A>G | |
| NM_001321136.2:c.829A>G | NP_001308065.1:p.Asn277Asp | |
| NM_003978.5:c.856A>G MANE Select | NP_003969.2:p.Asn286Asp | |
| NR_135552.2:n.1109+1601A>G |