Linked Data
dbSNP Id:
rs148598779
ExAC:
5:127693085 T / A
gnomAD v2:
5-127693085-T-A
gnomAD v4:
5-128357393-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357393T>A , CM000667.2:g.128357393T>A | GRCh38 |
| NC_000005.9:g.127693085T>A , CM000667.1:g.127693085T>A | GRCh37 |
| NC_000005.8:g.127720984T>A | NCBI36 |
| NG_008750.1:g.185651A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2557A>T MANE Select | ENSP00000262464.4:p.Ile853Leu | |
| ENST00000262464.8:c.2557A>T | ENSP00000262464.4:p.Ile853Leu | |
| ENST00000508053.5:c.2557A>T | ENSP00000424571.1:p.Ile853Leu | |
| ENST00000508989.5:c.2458A>T | ENSP00000425596.1:p.Ile820Leu | |
| ENST00000619499.4:c.2554A>T | ENSP00000482132.1:p.Ile852Leu | |
| NM_001999.3:c.2557A>T | NP_001990.2:p.Ile853Leu | |
| XM_017009228.2:c.2404A>T | XP_016864717.1:p.Ile802Leu | |
| NM_001999.4:c.2557A>T MANE Select | NP_001990.2:p.Ile853Leu |