Linked Data
ClinVar Variation Id:
2996505
ClinVar RCV Id:
RCV003856656
gnomAD v4:
19-45012096-C-T
MyVariant Identifiers:
chr19:g.45515354C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45012096C>T , CM000681.2:g.45012096C>T | GRCh38 |
| NC_000019.9:g.45515354C>T , CM000681.1:g.45515354C>T | GRCh37 |
| NC_000019.8:g.50207194C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.315C>T | ENSP00000423287.1:p.Gly105= | |
| ENST00000700471.1:c.162C>T | ENSP00000515004.1:p.Gly54= | |
| ENST00000221452.13:c.324C>T MANE Select | ENSP00000221452.7:p.Gly108= | |
| ENST00000221452.12:c.324C>T | ENSP00000221452.7:p.Gly108= | |
| ENST00000505236.1:c.315C>T | ENSP00000423287.1:p.Gly105= | |
| ENST00000509480.5:c.*411C>T | ENSP00000427348.1:n.*411C>T | |
| ENST00000625761.2:c.324C>T | ENSP00000485826.1:p.Gly108= | |
| NM_006509.3:c.324C>T | NP_006500.2:p.Gly108= | |
| XM_005259127.2:c.315C>T | XP_005259184.1:p.Gly105= | |
| XM_005259128.2:c.324C>T | XP_005259185.1:p.Gly108= | |
| XM_005259127.3:c.315C>T | XP_005259184.1:p.Gly105= | |
| NM_006509.4:c.324C>T MANE Select | NP_006500.2:p.Gly108= |