Linked Data
ClinVar Variation Id:
9754
ClinVar RCV Id:
RCV000010408
dbSNP Id:
rs104894971
ExAC:
Y:2655592 C / T
gnomAD v2:
Y-2655592-C-T
gnomAD v3:
Y-2787551-C-T
gnomAD v4:
Y-2787551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787551C>T , CM000686.2:g.2787551C>T | GRCh38 |
| NC_000024.9:g.2655592C>T , CM000686.1:g.2655592C>T | GRCh37 |
| NC_000024.8:g.2715592C>T | NCBI36 |
| NG_011751.1:g.5201G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12812C>T | ||
| ENST00000679825.1:n.663C>T | ||
| ENST00000680285.1:n.320-2198C>T | ||
| ENST00000680845.1:n.237C>T | ||
| ENST00000681787.1:n.106+12812C>T | ||
| ENST00000681940.1:n.106+12812C>T | ||
| ENST00000383070.2:c.53G>A MANE Select | ENSP00000372547.1:p.Ser18Asn | |
| ENST00000383070.1:c.53G>A | ENSP00000372547.1:p.Ser18Asn | |
| NM_003140.2:c.53G>A | NP_003131.1:p.Ser18Asn | |
| NM_003140.3:c.53G>A MANE Select | NP_003131.1:p.Ser18Asn |