Linked Data
ClinVar Variation Id:
730901
ClinVar RCV Id:
RCV000905769
dbSNP Id:
rs140509709
ExAC:
9:136594963 C / T
gnomAD v2:
9-136594963-C-T
gnomAD v3:
9-133729841-C-T
gnomAD v4:
9-133729841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133729841C>T , CM000671.2:g.133729841C>T | GRCh38 |
| NC_000009.11:g.136594963C>T , CM000671.1:g.136594963C>T | GRCh37 |
| NC_000009.10:g.135584784C>T | NCBI36 |
| NG_008987.1:g.15115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439388.6:c.839G>A MANE Select | ENSP00000403084.1:p.Arg280Gln | |
| ENST00000298628.6:c.839G>A | ENSP00000298628.5:p.Arg280Gln | |
| ENST00000371867.5:c.572G>A | ENSP00000360933.1:p.Arg191Gln | |
| ENST00000371872.8:c.839G>A | ENSP00000360938.4:p.Arg280Gln | |
| ENST00000422262.6:c.-2G>A | ENSP00000415537.3:n.-2G>A | |
| ENST00000427237.6:c.839G>A | ENSP00000394210.2:p.Arg280Gln | |
| ENST00000439388.5:c.839G>A | ENSP00000403084.1:p.Arg280Gln | |
| ENST00000616662.4:c.839G>A | ENSP00000484683.1:p.Arg280Gln | |
| NM_001134707.1:c.839G>A | NP_001128179.1:p.Arg280Gln | |
| NM_007101.3:c.839G>A | NP_009032.2:p.Arg280Gln | |
| XM_006716990.2:c.839G>A | XP_006717053.1:p.Arg280Gln | |
| XM_011518333.1:c.839G>A | XP_011516635.1:p.Arg280Gln | |
| XR_929726.1:n.1006G>A | ||
| XR_929727.1:n.1006G>A | ||
| XR_929728.1:n.1006G>A | ||
| XM_017014367.1:c.839G>A | XP_016869856.1:p.Arg280Gln | |
| XM_017014368.1:c.839G>A | XP_016869857.1:p.Arg280Gln | |
| XR_001746213.1:n.1135G>A | ||
| XR_001746214.1:n.2318G>A | ||
| XR_001746215.1:n.1137G>A | ||
| XR_001746216.1:n.1135G>A | ||
| XR_001746217.1:n.1135G>A | ||
| XR_001746218.1:n.1135G>A | ||
| XR_929726.2:n.1006G>A | ||
| NM_001134707.2:c.839G>A MANE Select | NP_001128179.1:p.Arg280Gln | |
| NM_007101.4:c.839G>A | NP_009032.2:p.Arg280Gln |