Linked Data
ClinVar Variation Id:
213301
dbSNP Id:
rs139118782
ExAC:
5:127681057 A / T
gnomAD v3:
5-128345365-A-T
gnomAD v4:
5-128345365-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128345365A>T , CM000667.2:g.128345365A>T | GRCh38 |
| NC_000005.9:g.127681057A>T , CM000667.1:g.127681057A>T | GRCh37 |
| NC_000005.8:g.127708956A>T | NCBI36 |
| NG_008750.1:g.197679T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.3209T>A MANE Select | ENSP00000262464.4:p.Phe1070Tyr | |
| ENST00000262464.8:c.3209T>A | ENSP00000262464.4:p.Phe1070Tyr | |
| ENST00000508053.5:c.3209T>A | ENSP00000424571.1:p.Phe1070Tyr | |
| ENST00000508989.5:c.3110T>A | ENSP00000425596.1:p.Phe1037Tyr | |
| ENST00000619499.4:c.3206T>A | ENSP00000482132.1:p.Phe1069Tyr | |
| NM_001999.3:c.3209T>A | NP_001990.2:p.Phe1070Tyr | |
| XM_017009228.2:c.3056T>A | XP_016864717.1:p.Phe1019Tyr | |
| NM_001999.4:c.3209T>A MANE Select | NP_001990.2:p.Phe1070Tyr |