Linked Data
ClinVar Variation Id:
216836
ClinVar RCV Id:
RCV000195707
RCV000415792
RCV000493878
RCV001094576
RCV001449601
RCV001173081
RCV002426952
RCV003917822
dbSNP Id:
rs200033507
ExAC:
19:40903436 G / T
gnomAD v2:
19-40903436-G-T
gnomAD v3:
19-40397529-G-T
gnomAD v4:
19-40397529-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40397529G>T , CM000681.2:g.40397529G>T | GRCh38 |
| NC_000019.9:g.40903436G>T , CM000681.1:g.40903436G>T | GRCh37 |
| NC_000019.8:g.45595276G>T | NCBI36 |
| NG_007979.1:g.20836C>A , LRG_265:g.20836C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.823C>A MANE Select | ENSP00000326018.6:p.Leu275Ile | |
| ENST00000673881.1:c.406C>A | ENSP00000501070.1:p.Leu136Ile | |
| ENST00000674005.2:c.1108C>A | ENSP00000501261.1:p.Leu370Ile | |
| ENST00000674773.1:c.406C>A | ENSP00000502579.1:p.Leu136Ile | |
| ENST00000675517.1:c.698C>A | ||
| ENST00000676076.1:c.684C>A | ||
| ENST00000676260.1:c.785C>A | ||
| ENST00000676316.1:c.710C>A | ||
| ENST00000291825.11:c.*1028C>A | ENSP00000291825.6:n.*1028C>A | |
| ENST00000324001.7:c.823C>A | ENSP00000326018.6:p.Leu275Ile | |
| NM_020956.2:c.*1028C>A , LRG_265t1:c.*1028C>A | NP_066007.1:n.*1028C>A | |
| NM_181882.2:c.823C>A , LRG_265t2:c.823C>A | NP_870998.2:p.Leu275Ile | |
| XM_011527171.1:c.823C>A | XP_011525473.1:p.Leu275Ile | |
| XM_011527171.2:c.823C>A | XP_011525473.1:p.Leu275Ile | |
| XM_017027046.1:c.721C>A | XP_016882535.1:p.Leu241Ile | |
| XM_017027047.1:c.721C>A | XP_016882536.1:p.Leu241Ile | |
| NM_181882.3:c.823C>A MANE Select | NP_870998.2:p.Leu275Ile |