Linked Data
ClinVar Variation Id:
3157834
ClinVar RCV Id:
RCV004450155
dbSNP Id:
rs147435491
ExAC:
9:136595221 C / T
gnomAD v2:
9-136595221-C-T
gnomAD v3:
9-133730099-C-T
gnomAD v4:
9-133730099-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133730099C>T , CM000671.2:g.133730099C>T | GRCh38 |
| NC_000009.11:g.136595221C>T , CM000671.1:g.136595221C>T | GRCh37 |
| NC_000009.10:g.135585042C>T | NCBI36 |
| NG_008987.1:g.14857G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439388.6:c.779G>A MANE Select | ENSP00000403084.1:p.Gly260Asp | |
| ENST00000298628.6:c.779G>A | ENSP00000298628.5:p.Gly260Asp | |
| ENST00000371867.5:c.512G>A | ENSP00000360933.1:p.Gly171Asp | |
| ENST00000371872.8:c.779G>A | ENSP00000360938.4:p.Gly260Asp | |
| ENST00000422262.6:c.-62G>A | ENSP00000415537.3:n.-62G>A | |
| ENST00000427237.6:c.779G>A | ENSP00000394210.2:p.Gly260Asp | |
| ENST00000439388.5:c.779G>A | ENSP00000403084.1:p.Gly260Asp | |
| ENST00000616662.4:c.779G>A | ENSP00000484683.1:p.Gly260Asp | |
| NM_001134707.1:c.779G>A | NP_001128179.1:p.Gly260Asp | |
| NM_007101.3:c.779G>A | NP_009032.2:p.Gly260Asp | |
| XM_006716990.2:c.779G>A | XP_006717053.1:p.Gly260Asp | |
| XM_011518333.1:c.779G>A | XP_011516635.1:p.Gly260Asp | |
| XR_929726.1:n.946G>A | ||
| XR_929727.1:n.946G>A | ||
| XR_929728.1:n.946G>A | ||
| XM_017014367.1:c.779G>A | XP_016869856.1:p.Gly260Asp | |
| XM_017014368.1:c.779G>A | XP_016869857.1:p.Gly260Asp | |
| XR_001746213.1:n.1075G>A | ||
| XR_001746214.1:n.2258G>A | ||
| XR_001746215.1:n.1077G>A | ||
| XR_001746216.1:n.1075G>A | ||
| XR_001746217.1:n.1075G>A | ||
| XR_001746218.1:n.1075G>A | ||
| XR_929726.2:n.946G>A | ||
| NM_001134707.2:c.779G>A MANE Select | NP_001128179.1:p.Gly260Asp | |
| NM_007101.4:c.779G>A | NP_009032.2:p.Gly260Asp |