Linked Data
ClinVar Variation Id:
1615635
ClinVar RCV Id:
RCV002081607
dbSNP Id:
rs368042377
MyVariant Identifiers:
chr19:g.45525418C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45022160C>G , CM000681.2:g.45022160C>G | GRCh38 |
| NC_000019.9:g.45525418C>G , CM000681.1:g.45525418C>G | GRCh37 |
| NC_000019.8:g.50217258C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.603C>G | ENSP00000423287.1:p.Thr201= | |
| ENST00000700471.1:c.343-3169C>G | ENSP00000515004.1:n.343-3169C>G | |
| ENST00000221452.13:c.612C>G MANE Select | ENSP00000221452.7:p.Thr204= | |
| ENST00000221452.12:c.612C>G | ENSP00000221452.7:p.Thr204= | |
| ENST00000505236.1:c.603C>G | ENSP00000423287.1:p.Thr201= | |
| ENST00000510184.1:n.331C>G | ||
| ENST00000625761.2:c.612C>G | ENSP00000485826.1:p.Thr204= | |
| NM_006509.3:c.612C>G | NP_006500.2:p.Thr204= | |
| XM_005259127.2:c.603C>G | XP_005259184.1:p.Thr201= | |
| XM_005259128.2:c.612C>G | XP_005259185.1:p.Thr204= | |
| XM_005259127.3:c.603C>G | XP_005259184.1:p.Thr201= | |
| NM_006509.4:c.612C>G MANE Select | NP_006500.2:p.Thr204= |