Linked Data
ClinVar Variation Id:
954681
ClinVar RCV Id:
RCV001227186
dbSNP Id:
rs374223072
ExAC:
4:187126447 G / T
gnomAD v2:
4-187126447-G-T
gnomAD v3:
4-186205293-G-T
gnomAD v4:
4-186205293-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205293G>T , CM000666.2:g.186205293G>T | GRCh38 |
| NC_000004.11:g.187126447G>T , CM000666.1:g.187126447G>T | GRCh37 |
| NC_000004.10:g.187363441G>T | NCBI36 |
| NG_007965.1:g.18774G>T | |
| NG_012095.2:g.1315G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1081G>T MANE Select | ENSP00000368079.4:p.Asp361Tyr | |
| ENST00000378802.4:c.1081G>T | ENSP00000368079.4:p.Asp361Tyr | |
| ENST00000502665.1:n.316G>T | ||
| ENST00000507209.5:n.5779G>T | ||
| ENST00000513354.5:n.171G>T | ||
| NM_207352.3:c.1081G>T | NP_997235.3:p.Asp361Tyr | |
| XM_005262935.2:c.1081G>T | XP_005262992.1:p.Asp361Tyr | |
| XM_006714184.2:c.685G>T | XP_006714247.1:p.Asp229Tyr | |
| XM_005262935.4:c.1081G>T | XP_005262992.1:p.Asp361Tyr | |
| XM_017008037.1:c.685G>T | XP_016863526.1:p.Asp229Tyr | |
| NM_207352.4:c.1081G>T MANE Select | NP_997235.3:p.Asp361Tyr |