Linked Data
dbSNP Id:
rs762559154
ExAC:
1:94486954 A / C
gnomAD v2:
1-94486954-A-C
gnomAD v4:
1-94021398-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021398A>C , CM000663.2:g.94021398A>C | GRCh38 |
| NC_000001.10:g.94486954A>C , CM000663.1:g.94486954A>C | GRCh37 |
| NC_000001.9:g.94259542A>C | NCBI36 |
| NG_009073.1:g.104752T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4860T>G MANE Select | ENSP00000359245.3:p.Asn1620Lys | |
| ENST00000370225.3:c.4860T>G | ENSP00000359245.3:p.Asn1620Lys | |
| ENST00000460514.1:n.354T>G | ||
| ENST00000536513.5:c.1236T>G | ENSP00000439707.2:p.Asn412Lys | |
| NM_000350.2:c.4860T>G | NP_000341.2:p.Asn1620Lys | |
| NM_000350.3:c.4860T>G MANE Select | NP_000341.2:p.Asn1620Lys |