Linked Data
dbSNP Id:
rs780801862
ExAC:
10:96708875 A / T
gnomAD v2:
10-96708875-A-T
gnomAD v3:
10-94949118-A-T
gnomAD v4:
10-94949118-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949118A>T , CM000672.2:g.94949118A>T | GRCh38 |
| NC_000010.10:g.96708875A>T , CM000672.1:g.96708875A>T | GRCh37 |
| NC_000010.9:g.96698865A>T | NCBI36 |
| NG_008385.1:g.15461A>T | |
| NG_008385.2:g.15961A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.653A>T MANE Select | ENSP00000260682.6:p.Asn218Ile | |
| ENST00000643112.1:c.653A>T | ENSP00000496202.1:p.Asn218Ile | |
| ENST00000260682.6:c.653A>T | ENSP00000260682.6:p.Asn218Ile | |
| ENST00000473496.1:n.424A>T | ||
| NM_000771.3:c.653A>T | NP_000762.2:p.Asn218Ile | |
| NM_000771.4:c.653A>T MANE Select | NP_000762.2:p.Asn218Ile |