Linked Data
dbSNP Id:
rs771883357
ExAC:
19:49206463 G / A
gnomAD v2:
19-49206463-G-A
gnomAD v3:
19-48703206-G-A
gnomAD v4:
19-48703206-G-A
COSMIC:
COSM5755427
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703206G>A , CM000681.2:g.48703206G>A | GRCh38 |
| NC_000019.9:g.49206463G>A , CM000681.1:g.49206463G>A | GRCh37 |
| NC_000019.8:g.53898275G>A | NCBI36 |
| NG_007511.1:g.12236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.250G>A MANE Select | ENSP00000387498.2:p.Ala84Thr | |
| ENST00000522966.2:c.250G>A | ENSP00000430227.2:p.Ala84Thr | |
| ENST00000391876.5:c.250G>A | ENSP00000375748.4:p.Ala84Thr | |
| ENST00000425340.2:c.250G>A | ENSP00000387498.2:p.Ala84Thr | |
| ENST00000522966.1:c.250G>A | ENSP00000430227.1:p.Ala84Thr | |
| NM_000511.5:c.250G>A | NP_000502.4:p.Ala84Thr | |
| NM_001097638.2:c.250G>A | NP_001091107.1:p.Ala84Thr | |
| NR_131188.1:n.643C>T | ||
| NM_000511.6:c.250G>A MANE Select | NP_000502.4:p.Ala84Thr | |
| NM_001097638.3:c.250G>A | NP_001091107.1:p.Ala84Thr |