Linked Data
dbSNP Id:
rs778306339
ExAC:
17:4836004 G / A
gnomAD v2:
17-4836004-G-A
gnomAD v4:
17-4932709-G-A
COSMIC:
COSM5430342
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4932709G>A , CM000679.2:g.4932709G>A | GRCh38 |
| NC_000017.10:g.4836004G>A , CM000679.1:g.4836004G>A | GRCh37 |
| NC_000017.9:g.4776784G>A | NCBI36 |
| NG_008767.2:g.5415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.105G>A (GP1BA) MANE Select | ENSP00000329380.5:p.Lys35= | |
| ENST00000649830.1:c.-888+1633C>T (CHRNE) | ENSP00000496907.1:n.-888+1633C>T | |
| ENST00000329125.5:c.105G>A (GP1BA) | ENSP00000329380.5:p.Lys35= | |
| ENST00000611961.1:c.105G>A (GP1BA) | ENSP00000484439.1:p.Lys35= | |
| NM_000173.6:c.105G>A (GP1BA) | NP_000164.5:p.Lys35= | |
| NM_000173.7:c.105G>A (GP1BA) MANE Select | NP_000164.5:p.Lys35= |