Linked Data
ClinVar Variation Id:
39265
dbSNP Id:
rs199476189
ExAC:
4:187117229 G / T
gnomAD v2:
4-187117229-G-T
gnomAD v3:
4-186196075-G-T
gnomAD v4:
4-186196075-G-T
PubMed:
PMID:22497028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186196075G>T , CM000666.2:g.186196075G>T | GRCh38 |
| NC_000004.11:g.187117229G>T , CM000666.1:g.187117229G>T | GRCh37 |
| NC_000004.10:g.187354223G>T | NCBI36 |
| NG_007965.1:g.9556G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.400G>T MANE Select | ENSP00000368079.4:p.Gly134Ter | |
| ENST00000378802.4:c.400G>T | ENSP00000368079.4:p.Gly134Ter | |
| NM_207352.3:c.400G>T | NP_997235.3:p.Gly134Ter | |
| XM_005262935.2:c.400G>T | XP_005262992.1:p.Gly134Ter | |
| XM_006714184.2:c.18-865G>T | XP_006714247.1:n.18-865G>T | |
| XM_005262935.4:c.400G>T | XP_005262992.1:p.Gly134Ter | |
| XM_017008037.1:c.18-865G>T | XP_016863526.1:n.18-865G>T | |
| NM_207352.4:c.400G>T MANE Select | NP_997235.3:p.Gly134Ter |