Linked Data
ClinVar Variation Id:
102877
dbSNP Id:
rs62508693
gnomAD v3:
12-102851751-A-T
gnomAD v4:
12-102851751-A-T
ERepo:
CA229821/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851751A>T , CM000674.2:g.102851751A>T | GRCh38 |
| NC_000012.11:g.103245529A>T , CM000674.1:g.103245529A>T | GRCh37 |
| NC_000012.10:g.101769659A>T | NCBI36 |
| NG_008690.1:g.70852T>A | |
| NG_008690.2:g.111660T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.848T>A MANE Select | ENSP00000448059.1:p.Ile283Asn | |
| ENST00000307000.7:c.833T>A | ENSP00000303500.2:p.Ile278Asn | |
| ENST00000549247.6:n.607T>A | ||
| ENST00000551114.2:n.510T>A | ||
| ENST00000553106.5:c.848T>A | ENSP00000448059.1:p.Ile283Asn | |
| ENST00000635477.1:c.9T>A | ||
| NM_000277.1:c.848T>A | NP_000268.1:p.Ile283Asn | |
| XM_011538422.1:c.848T>A | XP_011536724.1:p.Ile283Asn | |
| NM_000277.2:c.848T>A | NP_000268.1:p.Ile283Asn | |
| NM_001354304.1:c.848T>A | NP_001341233.1:p.Ile283Asn | |
| NM_000277.3:c.848T>A MANE Select | NP_000268.1:p.Ile283Asn | |
| NM_001354304.2:c.848T>A | NP_001341233.1:p.Ile283Asn |