Linked Data
ClinVar Variation Id:
447634
dbSNP Id:
rs375848765
ExAC:
11:17409479 G / A
gnomAD v2:
11-17409479-G-A
gnomAD v3:
11-17387932-G-A
gnomAD v4:
11-17387932-G-A
PubMed:
PMID:16166157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387932G>A , CM000673.2:g.17387932G>A | GRCh38 |
| NC_000011.9:g.17409479G>A , CM000673.1:g.17409479G>A | GRCh37 |
| NC_000011.8:g.17366055G>A | NCBI36 |
| NG_012446.1:g.5728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528992.2:c.-69C>T | ENSP00000436479.2:n.-69C>T | |
| ENST00000682350.1:c.-16-86C>T | ENSP00000508090.1:n.-16-86C>T | |
| ENST00000682764.1:c.-16-86C>T | ENSP00000506780.1:n.-16-86C>T | |
| ENST00000339994.5:c.160C>T MANE Select | ENSP00000345708.4:p.Arg54Cys | |
| ENST00000339994.4:c.160C>T | ENSP00000345708.4:p.Arg54Cys | |
| ENST00000526912.1:c.-16-86C>T | ENSP00000432729.1:n.-16-86C>T | |
| ENST00000528731.1:c.-16-86C>T | ENSP00000434755.1:n.-16-86C>T | |
| ENST00000528992.1:c.177C>T | ||
| NM_000525.3:c.160C>T | NP_000516.3:p.Arg54Cys | |
| NM_001166290.1:c.-16-86C>T | NP_001159762.1:n.-16-86C>T | |
| XM_006718226.2:c.-16-86C>T | XP_006718289.1:n.-16-86C>T | |
| XR_930867.1:n.318C>T | ||
| XM_006718226.3:c.-16-86C>T | XP_006718289.1:n.-16-86C>T | |
| XM_017017680.1:c.-16-86C>T | XP_016873169.1:n.-16-86C>T | |
| NM_001166290.2:c.-16-86C>T | NP_001159762.1:n.-16-86C>T | |
| NM_001377296.1:c.-16-86C>T | NP_001364225.1:n.-16-86C>T | |
| NM_001377297.1:c.-16-86C>T | NP_001364226.1:n.-16-86C>T | |
| NM_000525.4:c.160C>T MANE Select | NP_000516.3:p.Arg54Cys |