Linked Data
ClinVar Variation Id:
448952
dbSNP Id:
rs561400866
ExAC:
19:4117495 G / A
gnomAD v2:
19-4117495-G-A
gnomAD v3:
19-4117497-G-A
gnomAD v4:
19-4117497-G-A
ERepo:
CA9091075/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117497G>A , CM000681.2:g.4117497G>A | GRCh38 |
| NC_000019.9:g.4117495G>A , CM000681.1:g.4117495G>A | GRCh37 |
| NC_000019.8:g.4068495G>A | NCBI36 |
| NG_007996.1:g.11632C>T , LRG_750:g.11632C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.664C>T | ||
| ENST00000687128.1:n.664C>T | ||
| ENST00000262948.10:c.225C>T MANE Select | ENSP00000262948.4:p.Ile75= | |
| ENST00000262948.9:c.225C>T | ENSP00000262948.3:p.Ile75= | |
| ENST00000394867.8:c.-67C>T | ENSP00000378336.1:n.-67C>T | |
| ENST00000599345.1:n.422C>T | ||
| NM_030662.3:c.225C>T , LRG_750t1:c.225C>T | NP_109587.1:p.Ile75= | |
| XM_006722799.2:c.225C>T | XP_006722862.1:p.Ile75= | |
| XM_017026989.1:c.225C>T | XP_016882478.1:p.Ile75= | |
| XM_017026990.1:c.225C>T | XP_016882479.1:p.Ile75= | |
| XM_017026991.1:c.225C>T | XP_016882480.1:p.Ile75= | |
| NM_030662.4:c.225C>T MANE Select | NP_109587.1:p.Ile75= |