Linked Data
ClinVar Variation Id:
732395
ClinVar RCV Id:
RCV000907529
dbSNP Id:
rs375404000
ExAC:
19:18001744 C / T
gnomAD v2:
19-18001744-C-T
gnomAD v3:
19-17890935-C-T
gnomAD v4:
19-17890935-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17890935C>T , CM000681.2:g.17890935C>T | GRCh38 |
| NC_000019.9:g.18001744C>T , CM000681.1:g.18001744C>T | GRCh37 |
| NC_000019.8:g.17862744C>T | NCBI36 |
| NG_012930.1:g.23963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.1701C>T MANE Select | ENSP00000222248.2:p.Leu567= | |
| ENST00000222248.3:c.1701C>T | ENSP00000222248.2:p.Leu567= | |
| NM_000453.2:c.1701C>T | NP_000444.1:p.Leu567= | |
| XM_011528192.1:c.1734C>T | XP_011526494.1:p.Leu578= | |
| XM_011528193.1:c.1467C>T | XP_011526495.1:p.Leu489= | |
| XM_011528194.1:c.1368C>T | XP_011526496.1:p.Leu456= | |
| XM_011528192.2:c.1734C>T | XP_011526494.1:p.Leu578= | |
| XM_011528193.3:c.1467C>T | XP_011526495.1:p.Leu489= | |
| XM_011528194.3:c.1368C>T | XP_011526496.1:p.Leu456= | |
| XM_017027158.1:c.1434C>T | XP_016882647.1:p.Leu478= | |
| NM_000453.3:c.1701C>T MANE Select | NP_000444.1:p.Leu567= |