Linked Data
ClinVar Variation Id:
1466056
ClinVar RCV Id:
RCV001963872
dbSNP Id:
rs1221516695
gnomAD v2:
2-219745718-A-T
gnomAD v4:
2-218880996-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218880996A>T , CM000664.2:g.218880996A>T | GRCh38 |
| NC_000002.11:g.219745718A>T , CM000664.1:g.219745718A>T | GRCh37 |
| NC_000002.10:g.219453962A>T | NCBI36 |
| NG_012179.1:g.5464A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1A>T MANE Select | ENSP00000258411.3:p.Met1Leu | |
| ENST00000258411.7:c.1A>T | ENSP00000258411.3:p.Met1Leu | |
| NM_025216.2:c.1A>T | NP_079492.2:p.Met1Leu | |
| XM_011511929.1:c.18-1165A>T | XP_011510231.1:n.18-1165A>T | |
| XM_011511930.1:c.1A>T | XP_011510232.1:p.Met1Leu | |
| XM_011511929.2:c.18-1165A>T | XP_011510231.1:n.18-1165A>T | |
| NM_025216.3:c.1A>T MANE Select | NP_079492.2:p.Met1Leu |