Linked Data
ClinVar Variation Id:
1041446
ClinVar RCV Id:
RCV001345258
dbSNP Id:
rs771224692
ExAC:
8:145740531 C / T
gnomAD v2:
8-145740531-C-T
gnomAD v4:
8-144515147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144515147C>T , CM000670.2:g.144515147C>T | GRCh38 |
| NC_000008.10:g.145740531C>T , CM000670.1:g.145740531C>T | GRCh37 |
| NC_000008.9:g.145711339C>T | NCBI36 |
| NG_016430.1:g.7680G>A | |
| NG_033083.1:g.2183C>T | |
| NG_016430.2:g.7680G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688394.1:n.506+3G>A | ||
| ENST00000617875.6:c.1483+3G>A MANE Select | ENSP00000482313.2:n.1483+3G>A | |
| ENST00000532846.2:c.368+3G>A | ||
| ENST00000617875.4:c.1483+3G>A | ENSP00000482313.1:n.1483+3G>A | |
| ENST00000621189.4:c.412+3G>A | ENSP00000483145.1:n.412+3G>A | |
| NM_004260.3:c.1483+3G>A | NP_004251.3:n.1483+3G>A | |
| XM_011517380.1:c.1483+3G>A | XP_011515682.1:n.1483+3G>A | |
| XM_011517381.1:c.1387+3G>A | XP_011515683.1:n.1387+3G>A | |
| XM_011517382.1:c.1483+3G>A | XP_011515684.1:n.1483+3G>A | |
| XM_011517383.1:c.1483+3G>A | XP_011515685.1:n.1483+3G>A | |
| XM_011517384.1:c.1483+3G>A | XP_011515686.1:n.1483+3G>A | |
| XM_011517385.1:c.346+3G>A | XP_011515687.1:n.346+3G>A | |
| XR_928366.1:n.1524+3G>A | ||
| XR_928367.1:n.1524+3G>A | ||
| XR_928368.1:n.1526+3G>A | ||
| XM_011517384.3:c.1483+3G>A | XP_011515686.1:n.1483+3G>A | |
| XM_017013991.2:c.1483+3G>A | XP_016869480.1:n.1483+3G>A | |
| XM_017013992.2:c.1483+3G>A | XP_016869481.1:n.1483+3G>A | |
| XM_017013993.2:c.1483+3G>A | XP_016869482.1:n.1483+3G>A | |
| XM_017013994.2:c.1387+3G>A | XP_016869483.1:n.1387+3G>A | |
| XM_017013995.2:c.1483+3G>A | XP_016869484.1:n.1483+3G>A | |
| XM_017013996.2:c.1483+3G>A | XP_016869485.1:n.1483+3G>A | |
| XM_017013997.2:c.1483+3G>A | XP_016869486.1:n.1483+3G>A | |
| XM_017013998.1:c.1483+3G>A | XP_016869487.1:n.1483+3G>A | |
| XM_017013999.2:c.1483+3G>A | XP_016869488.1:n.1483+3G>A | |
| XM_017014000.1:c.346+3G>A | XP_016869489.1:n.346+3G>A | |
| XM_017014001.2:c.346+3G>A | XP_016869490.1:n.346+3G>A | |
| XR_001745626.2:n.1520+3G>A | ||
| XR_001745627.2:n.1520+3G>A | ||
| XR_001745628.2:n.1520+3G>A | ||
| XR_001745629.2:n.1520+3G>A | ||
| XR_001745630.2:n.1520+3G>A | ||
| NM_004260.4:c.1483+3G>A MANE Select | NP_004251.4:n.1483+3G>A |