Linked Data
ClinVar Variation Id:
522644
ClinVar RCV Id:
RCV000625783
dbSNP Id:
rs745852738
ExAC:
19:13006841 G / C
gnomAD v2:
19-13006841-G-C
gnomAD v4:
19-12896027-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896027G>C , CM000681.2:g.12896027G>C | GRCh38 |
| NC_000019.9:g.13006841G>C , CM000681.1:g.13006841G>C | GRCh37 |
| NC_000019.8:g.12867841G>C | NCBI36 |
| NG_009292.1:g.9868G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.541G>C MANE Select | ENSP00000222214.4:p.Glu181Gln | |
| ENST00000222214.9:c.541G>C | ENSP00000222214.4:p.Glu181Gln | |
| ENST00000421816.6:n.519G>C | ||
| ENST00000585420.5:n.906G>C | ||
| ENST00000590530.5:c.596G>C | ENSP00000468452.1:p.Arg199Thr | |
| ENST00000591043.1:n.577G>C | ||
| ENST00000591470.5:c.541G>C | ENSP00000466845.1:p.Glu181Gln | |
| NM_000159.3:c.541G>C | NP_000150.1:p.Glu181Gln | |
| NM_013976.3:c.541G>C | NP_039663.1:p.Glu181Gln | |
| NR_102316.1:n.704G>C | ||
| NR_102317.1:n.957G>C | ||
| XM_006722721.2:c.541G>C | XP_006722784.1:p.Glu181Gln | |
| XM_011527899.1:c.541G>C | XP_011526201.1:p.Glu181Gln | |
| XM_011527900.1:c.541G>C | XP_011526202.1:p.Glu181Gln | |
| XM_011527899.2:c.541G>C | XP_011526201.1:p.Glu181Gln | |
| XM_011527900.2:c.541G>C | XP_011526202.1:p.Glu181Gln | |
| XM_017026580.1:c.541G>C | XP_016882069.1:p.Glu181Gln | |
| NM_000159.4:c.541G>C MANE Select | NP_000150.1:p.Glu181Gln | |
| NM_013976.4:c.541G>C | NP_039663.1:p.Glu181Gln | |
| NM_013976.5:c.541G>C | NP_039663.1:p.Glu181Gln |