Linked Data
ClinVar Variation Id:
130834
ClinVar RCV Id:
RCV000118950
dbSNP Id:
rs149913848
ExAC:
19:42728636 G / A
gnomAD v2:
19-42728636-G-A
gnomAD v3:
19-42224484-G-A
gnomAD v4:
19-42224484-G-A
COSMIC:
COSM3389061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42224484G>A , CM000681.2:g.42224484G>A | GRCh38 |
| NC_000019.9:g.42728636G>A , CM000681.1:g.42728636G>A | GRCh37 |
| NC_000019.8:g.47420476G>A | NCBI36 |
| NG_053183.1:g.9214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710326.1:c.81G>A | ENSP00000518206.1:p.Ser27= | |
| ENST00000301215.8:c.81G>A MANE Select | ENSP00000301215.2:p.Ser27= | |
| ENST00000678490.1:c.93+7573C>T | ||
| ENST00000301215.7:c.81G>A | ENSP00000301215.2:p.Ser27= | |
| ENST00000597945.1:c.81G>A | ENSP00000473075.1:p.Ser27= | |
| NM_001314033.1:c.81G>A | NP_001300962.1:p.Ser27= | |
| NM_133444.1:c.81G>A | NP_597701.1:p.Ser27= | |
| NM_133444.2:c.81G>A | NP_597701.1:p.Ser27= | |
| NM_001314033.2:c.81G>A | NP_001300962.1:p.Ser27= | |
| NM_001314033.3:c.81G>A | NP_001300962.1:p.Ser27= | |
| NM_133444.3:c.81G>A MANE Select | NP_597701.1:p.Ser27= |