Linked Data
dbSNP Id:
rs1050180
ExAC:
6:31237833 T / A
gnomAD v2:
6-31237833-T-A
gnomAD v3:
6-31270056-T-A
gnomAD v4:
6-31270056-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270056T>A , CM000668.2:g.31270056T>A | GRCh38 |
| NC_000006.11:g.31237833T>A , CM000668.1:g.31237833T>A | GRCh37 |
| NC_000006.10:g.31345812T>A | NCBI36 |
| NG_029422.2:g.7076A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.925A>T MANE Select | ENSP00000365402.5:p.Met309Leu | |
| ENST00000376228.9:c.925A>T | ENSP00000365402.5:p.Met309Leu | |
| ENST00000376237.8:c.*512A>T | ENSP00000365412.4:n.*512A>T | |
| ENST00000383329.7:c.925A>T | ENSP00000372819.3:p.Met309Leu | |
| ENST00000470363.5:n.243A>T | ||
| ENST00000487245.5:n.1284A>T | ||
| NM_002117.5:c.925A>T | NP_002108.4:p.Met309Leu | |
| NM_002117.6:c.925A>T MANE Select | NP_002108.4:p.Met309Leu |