Linked Data
ClinVar Variation Id:
371251
ClinVar RCV Id:
RCV000411911
dbSNP Id:
rs778153326
gnomAD v3:
19-12897789-G-C
gnomAD v4:
19-12897789-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12897789G>C , CM000681.2:g.12897789G>C | GRCh38 |
| NC_000019.9:g.13008603G>C , CM000681.1:g.13008603G>C | GRCh37 |
| NC_000019.8:g.12869603G>C | NCBI36 |
| NG_009292.1:g.11630G>C | |
| NG_033049.1:g.26484C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.1169G>C MANE Select | ENSP00000222214.4:p.Gly390Ala | |
| ENST00000222214.9:c.1169G>C | ENSP00000222214.4:p.Gly390Ala | |
| ENST00000585420.5:n.1499G>C | ||
| ENST00000590472.5:c.213G>C | ||
| ENST00000590530.5:c.*609G>C | ENSP00000468452.1:n.*609G>C | |
| ENST00000591043.1:n.1479G>C | ||
| ENST00000591050.1:c.136G>C | ||
| ENST00000591470.5:c.1169G>C | ENSP00000466845.1:p.Gly390Ala | |
| NM_000159.3:c.1169G>C | NP_000150.1:p.Gly390Ala | |
| NM_013976.3:c.1169G>C | NP_039663.1:p.Gly390Ala | |
| NR_102316.1:n.1332G>C | ||
| NR_102317.1:n.1550G>C | ||
| XM_006722721.2:c.1169G>C | XP_006722784.1:p.Gly390Ala | |
| XM_011527899.1:c.1169G>C | XP_011526201.1:p.Gly390Ala | |
| XM_011527900.1:c.1169G>C | XP_011526202.1:p.Gly390Ala | |
| XM_011527899.2:c.1169G>C | XP_011526201.1:p.Gly390Ala | |
| XM_011527900.2:c.1169G>C | XP_011526202.1:p.Gly390Ala | |
| XM_017026580.1:c.1169G>C | XP_016882069.1:p.Gly390Ala | |
| NM_000159.4:c.1169G>C MANE Select | NP_000150.1:p.Gly390Ala | |
| NM_013976.4:c.1169G>C | NP_039663.1:p.Gly390Ala | |
| NM_013976.5:c.1169G>C | NP_039663.1:p.Gly390Ala |