Linked Data
ClinVar Variation Id:
2081728
ClinVar RCV Id:
RCV002995569
dbSNP Id:
rs375119523
ExAC:
19:45515519 G / A
gnomAD v2:
19-45515519-G-A
gnomAD v3:
19-45012261-G-A
gnomAD v4:
19-45012261-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45012261G>A , CM000681.2:g.45012261G>A | GRCh38 |
| NC_000019.9:g.45515519G>A , CM000681.1:g.45515519G>A | GRCh37 |
| NC_000019.8:g.50207359G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.480G>A | ENSP00000423287.1:p.Thr160= | |
| ENST00000700471.1:c.327G>A | ENSP00000515004.1:p.Thr109= | |
| ENST00000221452.13:c.489G>A MANE Select | ENSP00000221452.7:p.Thr163= | |
| ENST00000221452.12:c.489G>A | ENSP00000221452.7:p.Thr163= | |
| ENST00000505236.1:c.480G>A | ENSP00000423287.1:p.Thr160= | |
| ENST00000625761.2:c.489G>A | ENSP00000485826.1:p.Thr163= | |
| NM_006509.3:c.489G>A | NP_006500.2:p.Thr163= | |
| XM_005259127.2:c.480G>A | XP_005259184.1:p.Thr160= | |
| XM_005259128.2:c.489G>A | XP_005259185.1:p.Thr163= | |
| XM_005259127.3:c.480G>A | XP_005259184.1:p.Thr160= | |
| NM_006509.4:c.489G>A MANE Select | NP_006500.2:p.Thr163= |