Linked Data
ClinVar Variation Id:
1927747
ClinVar RCV Id:
RCV002610040
dbSNP Id:
rs753504476
ExAC:
20:44684832 A / C
gnomAD v2:
20-44684832-A-C
gnomAD v3:
20-46056193-A-C
gnomAD v4:
20-46056193-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056193A>C , CM000682.2:g.46056193A>C | GRCh38 |
| NC_000020.10:g.44684832A>C , CM000682.1:g.44684832A>C | GRCh37 |
| NC_000020.9:g.44118239A>C | NCBI36 |
| NG_046341.1:g.39504A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.2831A>C MANE Select | ENSP00000243964.4:p.Lys944Thr | |
| ENST00000243964.6:c.2831A>C | ENSP00000243964.3:p.Lys944Thr | |
| ENST00000454036.6:c.2900A>C | ENSP00000387694.1:p.Lys967Thr | |
| ENST00000616201.4:c.1298-2463A>C | ENSP00000484585.1:n.1298-2463A>C | |
| ENST00000616202.4:c.613-2288A>C | ENSP00000478369.1:n.613-2288A>C | |
| ENST00000616933.4:c.*2149A>C | ENSP00000477569.1:n.*2149A>C | |
| ENST00000626937.2:c.510-3406A>C | ENSP00000485953.1:n.510-3406A>C | |
| ENST00000628413.1:n.347A>C | ||
| NM_001134771.1:c.2900A>C | NP_001128243.1:p.Lys967Thr | |
| NM_020708.4:c.2831A>C | NP_065759.1:p.Lys944Thr | |
| XM_017027981.1:c.2900A>C | XP_016883470.1:p.Lys967Thr | |
| NM_001134771.2:c.2900A>C | NP_001128243.1:p.Lys967Thr | |
| NM_020708.5:c.2831A>C MANE Select | NP_065759.1:p.Lys944Thr |