Linked Data
dbSNP Id:
rs749959760
ExAC:
5:127673810 A / C
gnomAD v2:
5-127673810-A-C
gnomAD v4:
5-128338118-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338118A>C , CM000667.2:g.128338118A>C | GRCh38 |
| NC_000005.9:g.127673810A>C , CM000667.1:g.127673810A>C | GRCh37 |
| NC_000005.8:g.127701709A>C | NCBI36 |
| NG_008750.1:g.204926T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.261T>G | ||
| ENST00000703785.1:n.342T>G | ||
| ENST00000262464.9:c.3477T>G MANE Select | ENSP00000262464.4:p.Ile1159Met | |
| ENST00000262464.8:c.3477T>G | ENSP00000262464.4:p.Ile1159Met | |
| ENST00000507835.5:c.27T>G | ENSP00000426839.1:p.Ile9Met | |
| ENST00000508053.5:c.3477T>G | ENSP00000424571.1:p.Ile1159Met | |
| ENST00000508989.5:c.3378T>G | ENSP00000425596.1:p.Ile1126Met | |
| ENST00000619499.4:c.3474T>G | ENSP00000482132.1:p.Ile1158Met | |
| NM_001999.3:c.3477T>G | NP_001990.2:p.Ile1159Met | |
| XM_017009228.2:c.3324T>G | XP_016864717.1:p.Ile1108Met | |
| NM_001999.4:c.3477T>G MANE Select | NP_001990.2:p.Ile1159Met |