Linked Data
ClinVar Variation Id:
1305078
ClinVar RCV Id:
RCV001773788
dbSNP Id:
rs1373598294
gnomAD v2:
19-18266864-G-A
gnomAD v3:
19-18156054-G-A
gnomAD v4:
19-18156054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156054G>A , CM000681.2:g.18156054G>A | GRCh38 |
| NC_000019.9:g.18266864G>A , CM000681.1:g.18266864G>A | GRCh37 |
| NC_000019.8:g.18127864G>A | NCBI36 |
| NG_033010.1:g.7877G>A | |
| NG_033010.2:g.7877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.175G>A MANE Select | ENSP00000222254.6:p.Gly59Ser | |
| ENST00000617130.5:c.175G>A | ENSP00000477864.2:p.Gly59Ser | |
| ENST00000617642.2:c.175G>A | ENSP00000484714.2:p.Gly59Ser | |
| ENST00000222254.12:c.175G>A | ENSP00000222254.6:p.Gly59Ser | |
| ENST00000426902.5:c.175G>A | ENSP00000395636.1:p.Gly59Ser | |
| ENST00000593731.1:c.175G>A | ENSP00000471914.1:p.Gly59Ser | |
| ENST00000617130.4:c.175G>A | ENSP00000477864.1:p.Gly59Ser | |
| ENST00000617642.1:c.175G>A | ENSP00000484714.1:p.Gly59Ser | |
| NM_005027.3:c.175G>A | NP_005018.1:p.Gly59Ser | |
| NR_073517.1:n.715G>A | ||
| NM_005027.4:c.175G>A MANE Select | NP_005018.2:p.Gly59Ser | |
| NR_073517.2:n.730G>A | ||
| NR_162071.1:n.730G>A |