Linked Data
dbSNP Id:
rs765793736
ExAC:
5:127673812 T / C
gnomAD v2:
5-127673812-T-C
gnomAD v4:
5-128338120-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338120T>C , CM000667.2:g.128338120T>C | GRCh38 |
| NC_000005.9:g.127673812T>C , CM000667.1:g.127673812T>C | GRCh37 |
| NC_000005.8:g.127701711T>C | NCBI36 |
| NG_008750.1:g.204924A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.259A>G | ||
| ENST00000703785.1:n.340A>G | ||
| ENST00000262464.9:c.3475A>G MANE Select | ENSP00000262464.4:p.Ile1159Val | |
| ENST00000262464.8:c.3475A>G | ENSP00000262464.4:p.Ile1159Val | |
| ENST00000507835.5:c.25A>G | ENSP00000426839.1:p.Ile9Val | |
| ENST00000508053.5:c.3475A>G | ENSP00000424571.1:p.Ile1159Val | |
| ENST00000508989.5:c.3376A>G | ENSP00000425596.1:p.Ile1126Val | |
| ENST00000619499.4:c.3472A>G | ENSP00000482132.1:p.Ile1158Val | |
| NM_001999.3:c.3475A>G | NP_001990.2:p.Ile1159Val | |
| XM_017009228.2:c.3322A>G | XP_016864717.1:p.Ile1108Val | |
| NM_001999.4:c.3475A>G MANE Select | NP_001990.2:p.Ile1159Val |