Linked Data
gnomAD v4:
1-94021362-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021362A>T , CM000663.2:g.94021362A>T | GRCh38 |
| NC_000001.10:g.94486918A>T , CM000663.1:g.94486918A>T | GRCh37 |
| NC_000001.9:g.94259506A>T | NCBI36 |
| NG_009073.1:g.104788T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4896T>A MANE Select | ENSP00000359245.3:p.Asn1632Lys | |
| ENST00000370225.3:c.4896T>A | ENSP00000359245.3:p.Asn1632Lys | |
| ENST00000460514.1:n.390T>A | ||
| ENST00000470771.1:n.6T>A | ||
| ENST00000536513.5:c.1272T>A | ENSP00000439707.2:p.Asn424Lys | |
| NM_000350.2:c.4896T>A | NP_000341.2:p.Asn1632Lys | |
| NM_000350.3:c.4896T>A MANE Select | NP_000341.2:p.Asn1632Lys |