Linked Data
ClinVar Variation Id:
1987097
ClinVar RCV Id:
RCV002805678
dbSNP Id:
rs1055156060
gnomAD v2:
19-7592494-C-T
gnomAD v3:
19-7527608-C-T
gnomAD v4:
19-7527608-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527608C>T , CM000681.2:g.7527608C>T | GRCh38 |
| NC_000019.9:g.7592494C>T , CM000681.1:g.7592494C>T | GRCh37 |
| NC_000019.8:g.7498494C>T | NCBI36 |
| NG_015806.1:g.9999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.660C>T MANE Select | ENSP00000264079.5:p.Asn220= | |
| ENST00000264079.10:c.660C>T | ENSP00000264079.5:p.Asn220= | |
| ENST00000394321.9:n.740C>T | ||
| ENST00000598406.1:n.481C>T | ||
| ENST00000601003.1:c.572-256C>T | ENSP00000469074.1:n.572-256C>T | |
| NM_020533.2:c.660C>T | NP_065394.1:p.Asn220= | |
| NM_020533.3:c.660C>T MANE Select | NP_065394.1:p.Asn220= |