Linked Data
dbSNP Id:
rs777624170
ExAC:
8:19809418 C / A
gnomAD v2:
8-19809418-C-A
gnomAD v3:
8-19951907-C-A
gnomAD v4:
8-19951907-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951907C>A , CM000670.2:g.19951907C>A | GRCh38 |
| NC_000008.10:g.19809418C>A , CM000670.1:g.19809418C>A | GRCh37 |
| NC_000008.9:g.19853698C>A | NCBI36 |
| NG_008855.1:g.17837C>A | |
| NG_008855.2:g.55191C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.388C>A MANE Select | ENSP00000497642.1:p.Leu130Met | |
| ENST00000311322.8:c.388C>A | ENSP00000309757.6:p.Leu130Met | |
| ENST00000520959.5:c.160C>A | ENSP00000428496.1:p.Leu54Met | |
| ENST00000524029.5:c.388C>A | ||
| NM_000237.2:c.388C>A | NP_000228.1:p.Leu130Met | |
| NM_000237.3:c.388C>A MANE Select | NP_000228.1:p.Leu130Met |