Linked Data
dbSNP Id:
rs577430628
ExAC:
19:49206345 G / A
gnomAD v2:
19-49206345-G-A
gnomAD v3:
19-48703088-G-A
gnomAD v4:
19-48703088-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703088G>A , CM000681.2:g.48703088G>A | GRCh38 |
| NC_000019.9:g.49206345G>A , CM000681.1:g.49206345G>A | GRCh37 |
| NC_000019.8:g.53898157G>A | NCBI36 |
| NG_007511.1:g.12118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.132G>A MANE Select | ENSP00000387498.2:p.Gln44= | |
| ENST00000522966.2:c.132G>A | ENSP00000430227.2:p.Gln44= | |
| ENST00000391876.5:c.132G>A | ENSP00000375748.4:p.Gln44= | |
| ENST00000425340.2:c.132G>A | ENSP00000387498.2:p.Gln44= | |
| ENST00000522966.1:c.132G>A | ENSP00000430227.1:p.Gln44= | |
| NM_000511.5:c.132G>A | NP_000502.4:p.Gln44= | |
| NM_001097638.2:c.132G>A | NP_001091107.1:p.Gln44= | |
| NR_131188.1:n.761C>T | ||
| NM_000511.6:c.132G>A MANE Select | NP_000502.4:p.Gln44= | |
| NM_001097638.3:c.132G>A | NP_001091107.1:p.Gln44= |