Linked Data
dbSNP Id:
rs367836099
ExAC:
8:145737268 G / A
gnomAD v2:
8-145737268-G-A
gnomAD v3:
8-144511885-G-A
gnomAD v4:
8-144511885-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144511885G>A , CM000670.2:g.144511885G>A | GRCh38 |
| NC_000008.10:g.145737268G>A , CM000670.1:g.145737268G>A | GRCh37 |
| NC_000008.9:g.145708076G>A | NCBI36 |
| NG_016430.1:g.10942C>T | |
| NG_016430.2:g.10942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.3393+26C>T MANE Select | ENSP00000482313.2:n.3393+26C>T | |
| ENST00000301323.7:c.410+26C>T | ||
| ENST00000529424.2:n.50-96C>T | ||
| ENST00000531875.2:c.648+17C>T | ENSP00000477910.1:n.648+17C>T | |
| ENST00000617875.4:c.3393+26C>T | ENSP00000482313.1:n.3393+26C>T | |
| ENST00000621189.4:c.2322+26C>T | ENSP00000483145.1:n.2322+26C>T | |
| NM_004260.3:c.3393+26C>T | NP_004251.3:n.3393+26C>T | |
| XM_011517380.1:c.3468+26C>T | XP_011515682.1:n.3468+26C>T | |
| XM_011517381.1:c.3372+26C>T | XP_011515683.1:n.3372+26C>T | |
| XM_011517382.1:c.3276+26C>T | XP_011515684.1:n.3276+26C>T | |
| XM_011517383.1:c.3270+26C>T | XP_011515685.1:n.3270+26C>T | |
| XM_011517384.1:c.3195+26C>T | XP_011515686.1:n.3195+26C>T | |
| XM_011517385.1:c.2331+26C>T | XP_011515687.1:n.2331+26C>T | |
| XR_928366.1:n.3353-96C>T | ||
| XR_928367.1:n.3448+26C>T | ||
| XR_928368.1:n.3341+26C>T | ||
| XM_011517384.3:c.3195+26C>T | XP_011515686.1:n.3195+26C>T | |
| XM_017013991.2:c.3584C>T | XP_016869480.1:p.Ser1195Leu | |
| XM_017013992.2:c.3509C>T | XP_016869481.1:p.Ser1170Leu | |
| XM_017013993.2:c.3494C>T | XP_016869482.1:p.Ser1165Leu | |
| XM_017013994.2:c.3488C>T | XP_016869483.1:p.Ser1163Leu | |
| XM_017013995.2:c.3419C>T | XP_016869484.1:p.Ser1140Leu | |
| XM_017013996.2:c.3558+26C>T | XP_016869485.1:n.3558+26C>T | |
| XM_017013997.2:c.3386C>T | XP_016869486.1:p.Ser1129Leu | |
| XM_017013998.1:c.3483+26C>T | XP_016869487.1:n.3483+26C>T | |
| XM_017013999.2:c.3296C>T | XP_016869488.1:p.Ser1099Leu | |
| XM_017014000.1:c.2447C>T | XP_016869489.1:p.Ser816Leu | |
| XM_017014001.2:c.2357C>T | XP_016869490.1:p.Ser786Leu | |
| XR_001745626.2:n.3439-96C>T | ||
| XR_001745627.2:n.3534+26C>T | ||
| XR_001745628.2:n.3425+26C>T | ||
| XR_001745629.2:n.3288+26C>T | ||
| XR_001745630.2:n.3090+26C>T | ||
| NM_004260.4:c.3393+26C>T MANE Select | NP_004251.4:n.3393+26C>T |