Linked Data
dbSNP Id:
rs1751526738
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357331G>T , CM000667.2:g.128357331G>T | GRCh38 |
| NC_000005.9:g.127693023G>T , CM000667.1:g.127693023G>T | GRCh37 |
| NC_000005.8:g.127720922G>T | NCBI36 |
| NG_008750.1:g.185713C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2619C>A MANE Select | ENSP00000262464.4:p.Phe873Leu | |
| ENST00000262464.8:c.2619C>A | ENSP00000262464.4:p.Phe873Leu | |
| ENST00000508053.5:c.2619C>A | ENSP00000424571.1:p.Phe873Leu | |
| ENST00000508989.5:c.2520C>A | ENSP00000425596.1:p.Phe840Leu | |
| ENST00000619499.4:c.2616C>A | ENSP00000482132.1:p.Phe872Leu | |
| NM_001999.3:c.2619C>A | NP_001990.2:p.Phe873Leu | |
| XM_017009228.2:c.2466C>A | XP_016864717.1:p.Phe822Leu | |
| NM_001999.4:c.2619C>A MANE Select | NP_001990.2:p.Phe873Leu |