Linked Data
dbSNP Id:
rs558534216
ExAC:
2:208994224 C / T
gnomAD v2:
2-208994224-C-T
gnomAD v3:
2-208129500-C-T
gnomAD v4:
2-208129500-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129500C>T , CM000664.2:g.208129500C>T | GRCh38 |
| NC_000002.11:g.208994224C>T , CM000664.1:g.208994224C>T | GRCh37 |
| NC_000002.10:g.208702469C>T | NCBI36 |
| NG_008038.1:g.5331G>A | |
| NG_008039.1:g.90G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.193G>A MANE Select | ENSP00000282141.3:p.Asp65Asn | |
| ENST00000282141.3:c.193G>A | ENSP00000282141.3:p.Asp65Asn | |
| NM_020989.3:c.193G>A | NP_066269.1:p.Asp65Asn | |
| NR_038437.1:n.98-7556C>T | ||
| XM_011510661.1:c.193G>A | XP_011508963.1:p.Asp65Asn | |
| XM_011510662.1:c.193G>A | XP_011508964.1:p.Asp65Asn | |
| XM_011510663.1:c.64G>A | XP_011508965.1:p.Asp22Asn | |
| NM_020989.4:c.193G>A MANE Select | NP_066269.1:p.Asp65Asn |