Linked Data
dbSNP Id:
rs540907763
gnomAD v2:
14-91745608-C-T
gnomAD v3:
14-91279264-C-T
gnomAD v4:
14-91279264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91279264C>T , CM000676.2:g.91279264C>T | GRCh38 |
| NC_000014.8:g.91745608C>T , CM000676.1:g.91745608C>T | GRCh37 |
| NC_000014.7:g.90815361C>T | NCBI36 |
| NG_033118.1:g.143581G>A | |
| NG_033118.2:g.143581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.4742G>A MANE Select | ENSP00000374507.6:p.Ser1581Asn | |
| ENST00000331194.8:c.314G>A | ENSP00000330332.8:p.Ser105Asn | |
| ENST00000334448.5:n.554G>A | ||
| ENST00000389857.10:c.4742G>A | ENSP00000374507.6:p.Ser1581Asn | |
| ENST00000556726.5:c.970G>A | ||
| ENST00000557455.1:n.714G>A | ||
| NM_001080414.3:c.4742G>A | NP_001073883.2:p.Ser1581Asn | |
| XM_011536796.1:c.4634G>A | XP_011535098.1:p.Ser1545Asn | |
| XR_429316.2:n.5017G>A | ||
| XM_011536796.2:c.4634G>A | XP_011535098.1:p.Ser1545Asn | |
| XM_017021336.1:c.1823G>A | XP_016876825.1:p.Ser608Asn | |
| XR_429316.4:n.5015G>A | ||
| NM_001080414.4:c.4742G>A MANE Select | NP_001073883.2:p.Ser1581Asn |