Linked Data
dbSNP Id:
rs773056826
ExAC:
5:127730847 G / A
gnomAD v2:
5-127730847-G-A
gnomAD v3:
5-128395154-G-A
gnomAD v4:
5-128395154-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128395154G>A , CM000667.2:g.128395154G>A | GRCh38 |
| NC_000005.9:g.127730847G>A , CM000667.1:g.127730847G>A | GRCh37 |
| NC_000005.8:g.127758746G>A | NCBI36 |
| NG_008750.1:g.147889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703787.1:n.906C>T | ||
| ENST00000262464.9:c.1199C>T MANE Select | ENSP00000262464.4:p.Thr400Ile | |
| ENST00000262464.8:c.1199C>T | ENSP00000262464.4:p.Thr400Ile | |
| ENST00000508053.5:c.1199C>T | ENSP00000424571.1:p.Thr400Ile | |
| ENST00000508989.5:c.1100C>T | ENSP00000425596.1:p.Thr367Ile | |
| ENST00000619499.4:c.1196C>T | ENSP00000482132.1:p.Thr399Ile | |
| NM_001999.3:c.1199C>T | NP_001990.2:p.Thr400Ile | |
| XM_017009228.2:c.1079-1786C>T | XP_016864717.1:n.1079-1786C>T | |
| NM_001999.4:c.1199C>T MANE Select | NP_001990.2:p.Thr400Ile |