Linked Data
dbSNP Id:
rs138292714
ExAC:
19:49090570 G / A
gnomAD v2:
19-49090570-G-A
gnomAD v3:
19-48587313-G-A
gnomAD v4:
19-48587313-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587313G>A , CM000681.2:g.48587313G>A | GRCh38 |
| NC_000019.9:g.49090570G>A , CM000681.1:g.49090570G>A | GRCh37 |
| NC_000019.8:g.53782382G>A | NCBI36 |
| NG_029063.1:g.40142G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.299G>A MANE Select | ENSP00000201586.2:p.Arg100Gln | |
| ENST00000201586.6:c.299G>A | ENSP00000201586.1:p.Arg100Gln | |
| ENST00000323090.4:c.254G>A | ENSP00000312880.3:p.Arg85Gln | |
| NM_004605.2:c.254G>A | NP_004596.2:p.Arg85Gln | |
| NM_177973.1:c.299G>A | NP_814444.1:p.Arg100Gln | |
| NM_177973.2:c.299G>A MANE Select | NP_814444.1:p.Arg100Gln |