Linked Data
dbSNP Id:
rs758547274
ExAC:
2:207009707 T / A
gnomAD v2:
2-207009707-T-A
gnomAD v4:
2-206144983-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206144983T>A , CM000664.2:g.206144983T>A | GRCh38 |
| NC_000002.11:g.207009707T>A , CM000664.1:g.207009707T>A | GRCh37 |
| NC_000002.10:g.206717952T>A | NCBI36 |
| NG_009248.1:g.19481A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.781A>T MANE Select | ENSP00000233190.5:p.Ile261Phe | |
| ENST00000233190.10:c.781A>T | ENSP00000233190.5:p.Ile261Phe | |
| ENST00000423725.5:c.610A>T | ENSP00000397760.1:p.Ile204Phe | |
| ENST00000432169.5:c.448A>T | ENSP00000409689.1:p.Ile150Phe | |
| ENST00000440274.5:c.673A>T | ENSP00000409766.1:p.Ile225Phe | |
| ENST00000449699.5:c.781A>T | ENSP00000399912.1:p.Ile261Phe | |
| ENST00000455934.6:c.823A>T | ENSP00000392709.2:p.Ile275Phe | |
| ENST00000457011.5:c.433A>T | ENSP00000400976.1:p.Ile145Phe | |
| NM_001199981.1:c.673A>T | NP_001186910.1:p.Ile225Phe | |
| NM_001199982.1:c.448A>T | NP_001186911.1:p.Ile150Phe | |
| NM_001199983.1:c.610A>T | NP_001186912.1:p.Ile204Phe | |
| NM_001199984.1:c.823A>T | NP_001186913.1:p.Ile275Phe | |
| NM_005006.6:c.781A>T | NP_004997.4:p.Ile261Phe | |
| XM_017004188.2:c.22A>T | XP_016859677.1:p.Ile8Phe | |
| NM_001199981.2:c.673A>T | NP_001186910.1:p.Ile225Phe | |
| NM_001199982.2:c.448A>T | NP_001186911.1:p.Ile150Phe | |
| NM_001199983.2:c.610A>T | NP_001186912.1:p.Ile204Phe | |
| NM_005006.7:c.781A>T MANE Select | NP_004997.4:p.Ile261Phe | |
| NM_001199984.2:c.823A>T | NP_001186913.1:p.Ile275Phe |