Linked Data
dbSNP Id:
rs780367614
ExAC:
18:28650814 T / A
gnomAD v2:
18-28650814-T-A
gnomAD v4:
18-31070848-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31070848T>A , CM000680.2:g.31070848T>A | GRCh38 |
| NC_000018.9:g.28650814T>A , CM000680.1:g.28650814T>A | GRCh37 |
| NC_000018.8:g.26904812T>A | NCBI36 |
| NG_008208.2:g.36578A>T , LRG_400:g.36578A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.1699A>T | ENSP00000507826.1:p.Ile567Phe | |
| ENST00000251081.8:c.2128A>T | ENSP00000251081.6:p.Ile710Phe | |
| ENST00000280904.11:c.2128A>T MANE Select | ENSP00000280904.6:p.Ile710Phe | |
| ENST00000648081.1:c.1699A>T | ENSP00000497441.1:p.Ile567Phe | |
| ENST00000251081.6:c.2128A>T | ENSP00000251081.6:p.Ile710Phe | |
| ENST00000280904.10:c.2128A>T | ENSP00000280904.6:p.Ile710Phe | |
| NM_004949.4:c.2128A>T | NP_004940.1:p.Ile710Phe | |
| NM_024422.4:c.2128A>T | NP_077740.1:p.Ile710Phe | |
| XM_005258206.3:c.1699A>T | XP_005258263.1:p.Ile567Phe | |
| XM_005258206.4:c.1699A>T | XP_005258263.1:p.Ile567Phe | |
| NM_004949.5:c.2128A>T | NP_004940.1:p.Ile710Phe | |
| NM_024422.6:c.2128A>T MANE Select | NP_077740.1:p.Ile710Phe |