Linked Data
ClinVar Variation Id:
958072
ClinVar RCV Id:
RCV001231168
dbSNP Id:
rs2084694133
gnomAD v3:
20-46056396-G-A
gnomAD v4:
20-46056396-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056396G>A , CM000682.2:g.46056396G>A | GRCh38 |
| NC_000020.10:g.44685035G>A , CM000682.1:g.44685035G>A | GRCh37 |
| NC_000020.9:g.44118442G>A | NCBI36 |
| NG_046341.1:g.39707G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.2942G>A MANE Select | ENSP00000243964.4:p.Ser981Asn | |
| ENST00000243964.6:c.2942G>A | ENSP00000243964.3:p.Ser981Asn | |
| ENST00000454036.6:c.3011G>A | ENSP00000387694.1:p.Ser1004Asn | |
| ENST00000616201.4:c.1298-2260G>A | ENSP00000484585.1:n.1298-2260G>A | |
| ENST00000616202.4:c.613-2085G>A | ENSP00000478369.1:n.613-2085G>A | |
| ENST00000616933.4:c.*2260G>A | ENSP00000477569.1:n.*2260G>A | |
| ENST00000626937.2:c.510-3203G>A | ENSP00000485953.1:n.510-3203G>A | |
| ENST00000628413.1:n.458G>A | ||
| NM_001134771.1:c.3011G>A | NP_001128243.1:p.Ser1004Asn | |
| NM_020708.4:c.2942G>A | NP_065759.1:p.Ser981Asn | |
| XM_017027981.1:c.3011G>A | XP_016883470.1:p.Ser1004Asn | |
| NM_001134771.2:c.3011G>A | NP_001128243.1:p.Ser1004Asn | |
| NM_020708.5:c.2942G>A MANE Select | NP_065759.1:p.Ser981Asn |