Linked Data
ClinVar Variation Id:
2929650
ClinVar RCV Id:
RCV003784816
dbSNP Id:
rs201249721
ExAC:
12:122284822 G / A
gnomAD v2:
12-122284822-G-A
gnomAD v3:
12-121846916-G-A
gnomAD v4:
12-121846916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121846916G>A , CM000674.2:g.121846916G>A | GRCh38 |
| NC_000012.11:g.122284822G>A , CM000674.1:g.122284822G>A | GRCh37 |
| NC_000012.10:g.120769205G>A | NCBI36 |
| NG_016461.1:g.46696C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.777C>T MANE Select | ENSP00000289004.4:p.Asn259= | |
| ENST00000543163.5:c.660C>T | ENSP00000441677.1:p.Asn220= | |
| NM_001171993.1:c.660C>T | NP_001165464.1:p.Asn220= | |
| NM_002150.2:c.777C>T | NP_002141.1:p.Asn259= | |
| NM_002150.3:c.777C>T MANE Select | NP_002141.2:p.Asn259= | |
| NM_001171993.2:c.660C>T | NP_001165464.1:p.Asn220= |