Linked Data
ClinVar Variation Id:
40825
dbSNP Id:
rs145934142
ExAC:
19:4099295 G / A
gnomAD v2:
19-4099295-G-A
gnomAD v3:
19-4099297-G-A
gnomAD v4:
19-4099297-G-A
ERepo:
CA137969/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099297G>A , CM000681.2:g.4099297G>A | GRCh38 |
| NC_000019.9:g.4099295G>A , CM000681.1:g.4099295G>A | GRCh37 |
| NC_000019.8:g.4050295G>A | NCBI36 |
| NG_007996.1:g.29832C>T , LRG_750:g.29832C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1262C>T | ||
| ENST00000687128.1:n.1262C>T | ||
| ENST00000688002.1:n.1117C>T | ||
| ENST00000689792.1:n.727C>T | ||
| ENST00000262948.10:c.823C>T MANE Select | ENSP00000262948.4:p.Leu275= | |
| ENST00000262948.9:c.823C>T | ENSP00000262948.3:p.Leu275= | |
| ENST00000394867.8:c.532C>T | ENSP00000378336.1:p.Leu178= | |
| ENST00000593364.5:n.770C>T | ||
| ENST00000595715.1:n.638C>T | ||
| ENST00000597263.5:n.169+1722C>T | ||
| ENST00000599021.1:c.29+1722C>T | ||
| ENST00000600584.5:n.1383C>T | ||
| ENST00000601786.5:n.1124C>T | ||
| NM_030662.3:c.823C>T , LRG_750t1:c.823C>T | NP_109587.1:p.Leu275= | |
| XM_006722799.2:c.705+1722C>T | XP_006722862.1:n.705+1722C>T | |
| XM_011528133.1:c.253C>T | XP_011526435.1:p.Leu85= | |
| XM_017026989.1:c.823C>T | XP_016882478.1:p.Leu275= | |
| XM_017026990.1:c.705+1722C>T | XP_016882479.1:n.705+1722C>T | |
| NM_030662.4:c.823C>T MANE Select | NP_109587.1:p.Leu275= |