Linked Data
dbSNP Id:
rs2889551
ExAC:
12:7945640 G / T
gnomAD v2:
12-7945640-G-T
gnomAD v3:
12-7793044-G-T
gnomAD v4:
12-7793044-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793044G>T , CM000674.2:g.7793044G>T | GRCh38 |
| NC_000012.11:g.7945640G>T , CM000674.1:g.7945640G>T | GRCh37 |
| NC_000012.10:g.7836907G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.246G>T MANE Select | ENSP00000229307.4:p.Lys82Asn | |
| ENST00000229307.8:c.246G>T | ENSP00000229307.4:p.Lys82Asn | |
| ENST00000526286.1:c.246G>T | ENSP00000435288.1:p.Lys82Asn | |
| ENST00000526434.2:n.390G>T | ||
| ENST00000541267.5:c.174G>T | ENSP00000444434.1:p.Lys58Asn | |
| NM_001297698.1:c.246G>T | NP_001284627.1:p.Lys82Asn | |
| NM_024865.3:c.246G>T | NP_079141.2:p.Lys82Asn | |
| XM_011520850.1:c.246G>T | XP_011519152.1:p.Lys82Asn | |
| XM_011520851.1:c.174G>T | XP_011519153.1:p.Lys58Asn | |
| XM_011520852.1:c.-127G>T | XP_011519154.1:n.-127G>T | |
| NM_024865.4:c.246G>T MANE Select | NP_079141.2:p.Lys82Asn | |
| NM_001297698.2:c.246G>T | NP_001284627.1:p.Lys82Asn |