Linked Data
ClinVar Variation Id:
737168
ClinVar RCV Id:
RCV001472406
dbSNP Id:
rs1305712372
gnomAD v2:
19-13007157-C-G
gnomAD v3:
19-12896343-C-G
gnomAD v4:
19-12896343-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896343C>G , CM000681.2:g.12896343C>G | GRCh38 |
| NC_000019.9:g.13007157C>G , CM000681.1:g.13007157C>G | GRCh37 |
| NC_000019.8:g.12868157C>G | NCBI36 |
| NG_009292.1:g.10184C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.774C>G MANE Select | ENSP00000222214.4:p.Ala258= | |
| ENST00000222214.9:c.774C>G | ENSP00000222214.4:p.Ala258= | |
| ENST00000421816.6:n.752C>G | ||
| ENST00000585420.5:n.1104C>G | ||
| ENST00000590530.5:c.*214C>G | ENSP00000468452.1:n.*214C>G | |
| ENST00000591043.1:n.810C>G | ||
| ENST00000591470.5:c.774C>G | ENSP00000466845.1:p.Ala258= | |
| NM_000159.3:c.774C>G | NP_000150.1:p.Ala258= | |
| NM_013976.3:c.774C>G | NP_039663.1:p.Ala258= | |
| NR_102316.1:n.937C>G | ||
| NR_102317.1:n.1155C>G | ||
| XM_006722721.2:c.774C>G | XP_006722784.1:p.Ala258= | |
| XM_011527899.1:c.774C>G | XP_011526201.1:p.Ala258= | |
| XM_011527900.1:c.774C>G | XP_011526202.1:p.Ala258= | |
| XM_011527899.2:c.774C>G | XP_011526201.1:p.Ala258= | |
| XM_011527900.2:c.774C>G | XP_011526202.1:p.Ala258= | |
| XM_017026580.1:c.774C>G | XP_016882069.1:p.Ala258= | |
| NM_000159.4:c.774C>G MANE Select | NP_000150.1:p.Ala258= | |
| NM_013976.4:c.774C>G | NP_039663.1:p.Ala258= | |
| NM_013976.5:c.774C>G | NP_039663.1:p.Ala258= |