Linked Data
dbSNP Id:
rs548146556
ExAC:
2:10188302 G / T
gnomAD v2:
2-10188302-G-T
gnomAD v3:
2-10048175-G-T
gnomAD v4:
2-10048175-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10048175G>T , CM000664.2:g.10048175G>T | GRCh38 |
| NC_000002.11:g.10188302G>T , CM000664.1:g.10188302G>T | GRCh37 |
| NC_000002.10:g.10105753G>T | NCBI36 |
| NG_017199.1:g.9621G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305883.6:c.838G>T MANE Select | ENSP00000307023.1:p.Val280Phe | |
| ENST00000305883.5:c.838G>T | ENSP00000307023.1:p.Val280Phe | |
| ENST00000535335.1:c.787G>T | ENSP00000442722.1:p.Val263Phe | |
| ENST00000540845.5:c.787G>T | ENSP00000444690.1:p.Val263Phe | |
| NM_001177716.1:c.787G>T | NP_001171187.1:p.Val263Phe | |
| NM_001177718.1:c.787G>T | NP_001171189.1:p.Val263Phe | |
| NM_003597.4:c.838G>T | NP_003588.1:p.Val280Phe | |
| XM_005246179.3:c.787G>T | XP_005246236.1:p.Val263Phe | |
| NM_003597.5:c.838G>T MANE Select | NP_003588.1:p.Val280Phe | |
| NM_001177716.2:c.787G>T | NP_001171187.1:p.Val263Phe | |
| NM_001177718.2:c.787G>T | NP_001171189.1:p.Val263Phe |