Linked Data
ClinVar Variation Id:
377238
dbSNP Id:
rs80203202
ExAC:
15:64017685 C / T
gnomAD v2:
15-64017685-C-T
gnomAD v3:
15-63725486-C-T
gnomAD v4:
15-63725486-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63725486C>T , CM000677.2:g.63725486C>T | GRCh38 |
| NC_000015.9:g.64017685C>T , CM000677.1:g.64017685C>T | GRCh37 |
| NC_000015.8:g.61804738C>T | NCBI36 |
| NG_046958.1:g.113464G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443617.7:c.3374G>A MANE Select | ENSP00000390158.2:p.Gly1125Asp | |
| ENST00000443617.6:c.3374G>A | ENSP00000390158.2:p.Gly1125Asp | |
| ENST00000561400.1:c.931-9013G>A | ENSP00000453937.1:n.931-9013G>A | |
| NM_003922.3:c.3374G>A | NP_003913.3:p.Gly1125Asp | |
| XM_011522138.1:c.3374G>A | XP_011520440.1:p.Gly1125Asp | |
| XM_011522139.1:c.3374G>A | XP_011520441.1:p.Gly1125Asp | |
| XM_011522140.1:c.3374G>A | XP_011520442.1:p.Gly1125Asp | |
| XM_011522141.1:c.3374G>A | XP_011520443.1:p.Gly1125Asp | |
| XM_011522142.1:c.3374G>A | XP_011520444.1:p.Gly1125Asp | |
| XM_011522143.1:c.3374G>A | XP_011520445.1:p.Gly1125Asp | |
| XM_011522144.1:c.3374G>A | XP_011520446.1:p.Gly1125Asp | |
| XM_011522145.1:c.3374G>A | XP_011520447.1:p.Gly1125Asp | |
| XM_011522146.1:c.3374G>A | XP_011520448.1:p.Gly1125Asp | |
| XM_011522147.1:c.3374G>A | XP_011520449.1:p.Gly1125Asp | |
| XM_011522148.1:c.3374G>A | XP_011520450.1:p.Gly1125Asp | |
| XM_011522149.1:c.3374G>A | XP_011520451.1:p.Gly1125Asp | |
| XM_011522150.1:c.3374G>A | XP_011520452.1:p.Gly1125Asp | |
| XM_011522151.1:c.3374G>A | XP_011520453.1:p.Gly1125Asp | |
| XM_011522152.1:c.3374G>A | XP_011520454.1:p.Gly1125Asp | |
| XR_931932.1:n.3519G>A | ||
| XR_931933.1:n.3519G>A | ||
| XR_931934.1:n.3519G>A | ||
| XR_931935.1:n.3519G>A | ||
| XM_017022699.2:c.3374G>A | XP_016878188.1:p.Gly1125Asp | |
| XM_017022700.2:c.3374G>A | XP_016878189.1:p.Gly1125Asp | |
| XM_017022701.2:c.3374G>A | XP_016878190.1:p.Gly1125Asp | |
| XM_017022702.2:c.3374G>A | XP_016878191.1:p.Gly1125Asp | |
| XM_017022703.2:c.3374G>A | XP_016878192.1:p.Gly1125Asp | |
| XM_017022704.2:c.3374G>A | XP_016878193.1:p.Gly1125Asp | |
| XM_017022705.2:c.3374G>A | XP_016878194.1:p.Gly1125Asp | |
| XM_017022706.2:c.3374G>A | XP_016878195.1:p.Gly1125Asp | |
| NM_003922.4:c.3374G>A MANE Select | NP_003913.3:p.Gly1125Asp |