Linked Data
ClinVar Variation Id:
40802
dbSNP Id:
rs139404261
ExAC:
19:4102404 G / A
gnomAD v2:
19-4102404-G-A
gnomAD v3:
19-4102406-G-A
gnomAD v4:
19-4102406-G-A
ERepo:
CA137946/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4102406G>A , CM000681.2:g.4102406G>A | GRCh38 |
| NC_000019.9:g.4102404G>A , CM000681.1:g.4102404G>A | GRCh37 |
| NC_000019.8:g.4053404G>A | NCBI36 |
| NG_007996.1:g.26723C>T , LRG_750:g.26723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.937C>T | ||
| ENST00000687128.1:n.937C>T | ||
| ENST00000689792.1:n.438C>T | ||
| ENST00000262948.10:c.498C>T MANE Select | ENSP00000262948.4:p.Pro166= | |
| ENST00000262948.9:c.498C>T | ENSP00000262948.3:p.Pro166= | |
| ENST00000394867.8:c.207C>T | ENSP00000378336.1:p.Pro69= | |
| ENST00000593364.5:n.445C>T | ||
| ENST00000597008.5:n.99C>T | ||
| ENST00000599345.1:n.768C>T | ||
| ENST00000601786.5:n.799C>T | ||
| ENST00000602167.5:n.218C>T | ||
| NM_030662.3:c.498C>T , LRG_750t1:c.498C>T | NP_109587.1:p.Pro166= | |
| XM_006722799.2:c.498C>T | XP_006722862.1:p.Pro166= | |
| XM_011528133.1:c.-73C>T | XP_011526435.1:n.-73C>T | |
| XM_017026989.1:c.498C>T | XP_016882478.1:p.Pro166= | |
| XM_017026990.1:c.498C>T | XP_016882479.1:p.Pro166= | |
| XM_017026991.1:c.498C>T | XP_016882480.1:p.Pro166= | |
| NM_030662.4:c.498C>T MANE Select | NP_109587.1:p.Pro166= |