Linked Data
dbSNP Id:
rs751176342
ExAC:
17:4836911 A / T
gnomAD v2:
17-4836911-A-T
gnomAD v4:
17-4933616-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933616A>T , CM000679.2:g.4933616A>T | GRCh38 |
| NC_000017.10:g.4836911A>T , CM000679.1:g.4836911A>T | GRCh37 |
| NC_000017.9:g.4777691A>T | NCBI36 |
| NG_008767.2:g.6322A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1012A>T (GP1BA) MANE Select | ENSP00000329380.5:p.Met338Leu | |
| ENST00000649830.1:c.-888+726T>A (CHRNE) | ENSP00000496907.1:n.-888+726T>A | |
| ENST00000329125.5:c.1012A>T (GP1BA) | ENSP00000329380.5:p.Met338Leu | |
| ENST00000611961.1:c.1012A>T (GP1BA) | ENSP00000484439.1:p.Met338Leu | |
| NM_000173.6:c.1012A>T (GP1BA) | NP_000164.5:p.Met338Leu | |
| NM_000173.7:c.1012A>T (GP1BA) MANE Select | NP_000164.5:p.Met338Leu |