Linked Data
ClinVar Variation Id:
329289
dbSNP Id:
rs886054441
gnomAD v2:
19-40904529-G-A
gnomAD v3:
19-40398622-G-A
gnomAD v4:
19-40398622-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40398622G>A , CM000681.2:g.40398622G>A | GRCh38 |
| NC_000019.9:g.40904529G>A , CM000681.1:g.40904529G>A | GRCh37 |
| NC_000019.8:g.45596369G>A | NCBI36 |
| NG_007979.1:g.19743C>T , LRG_265:g.19743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.379C>T MANE Select | ENSP00000326018.6:p.Leu127= | |
| ENST00000673881.1:c.-39C>T | ENSP00000501070.1:n.-39C>T | |
| ENST00000674005.2:c.664C>T | ENSP00000501261.1:p.Leu222= | |
| ENST00000674642.1:n.296C>T | ||
| ENST00000674773.1:c.-36-652C>T | ENSP00000502579.1:n.-36-652C>T | |
| ENST00000674978.1:n.426C>T | ||
| ENST00000675300.1:c.245C>T | ENSP00000502008.1:p.Ala82Val | |
| ENST00000675517.1:c.195C>T | ||
| ENST00000676076.1:c.195C>T | ||
| ENST00000676260.1:c.195C>T | ||
| ENST00000676316.1:c.195C>T | ||
| ENST00000291825.11:c.379C>T | ENSP00000291825.6:p.Leu127= | |
| ENST00000324001.7:c.379C>T | ENSP00000326018.6:p.Leu127= | |
| NM_020956.2:c.379C>T , LRG_265t1:c.379C>T | NP_066007.1:p.Leu127= | |
| NM_181882.2:c.379C>T , LRG_265t2:c.379C>T | NP_870998.2:p.Leu127= | |
| XM_011527171.1:c.379C>T | XP_011525473.1:p.Leu127= | |
| XM_011527171.2:c.379C>T | XP_011525473.1:p.Leu127= | |
| XM_017027046.1:c.277C>T | XP_016882535.1:p.Leu93= | |
| XM_017027047.1:c.277C>T | XP_016882536.1:p.Leu93= | |
| NM_181882.3:c.379C>T MANE Select | NP_870998.2:p.Leu127= |