Linked Data
ClinVar Variation Id:
128644
ClinVar RCV Id:
RCV000116616
dbSNP Id:
rs148798647
ExAC:
16:89245952 C / T
gnomAD v2:
16-89245952-C-T
gnomAD v3:
16-89179544-C-T
gnomAD v4:
16-89179544-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179544C>T , CM000678.2:g.89179544C>T | GRCh38 |
| NC_000016.9:g.89245952C>T , CM000678.1:g.89245952C>T | GRCh37 |
| NC_000016.8:g.87773453C>T | NCBI36 |
| NG_012055.1:g.12790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.171C>T MANE Select | ENSP00000289746.2:p.Asn57= | |
| ENST00000289746.2:c.171C>T | ENSP00000289746.2:p.Asn57= | |
| ENST00000521087.5:n.236C>T | ||
| ENST00000524089.1:n.236C>T | ||
| NM_004933.2:c.171C>T | NP_004924.1:p.Asn57= | |
| XM_011522806.1:c.171C>T | XP_011521108.1:p.Asn57= | |
| NM_004933.3:c.171C>T MANE Select | NP_004924.1:p.Asn57= |