Linked Data
dbSNP Id:
rs956831146
gnomAD v2:
15-23889622-T-A
gnomAD v3:
15-23644475-T-A
gnomAD v4:
15-23644475-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23644475T>A , CM000677.2:g.23644475T>A | GRCh38 |
| NC_000015.9:g.23889622T>A , CM000677.1:g.23889622T>A | GRCh37 |
| NC_000015.8:g.21440715T>A | NCBI36 |
| NG_016776.1:g.8372A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650528.1:c.3268A>T MANE Select | ENSP00000497810.1:p.Ile1090Phe | |
| ENST00000532292.2:c.3268A>T | ENSP00000433433.2:p.Ile1090Phe | |
| NM_019066.4:c.3268A>T | NP_061939.3:p.Ile1090Phe | |
| NM_019066.5:c.3268A>T MANE Select | NP_061939.3:p.Ile1090Phe |