Linked Data
ClinVar Variation Id:
260047
dbSNP Id:
rs880687
ExAC:
5:147486677 C / A
gnomAD v2:
5-147486677-C-A
gnomAD v3:
5-148107114-C-A
gnomAD v4:
5-148107114-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148107114C>A , CM000667.2:g.148107114C>A | GRCh38 |
| NC_000005.9:g.147486677C>A , CM000667.1:g.147486677C>A | GRCh37 |
| NC_000005.8:g.147466870C>A | NCBI36 |
| NG_009633.1:g.48143C>A , LRG_110:g.48143C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481286.6:n.1166C>A | ||
| ENST00000256084.8:c.1557C>A MANE Select | ENSP00000256084.7:p.Gly519= | |
| ENST00000256084.7:c.1557C>A | ENSP00000256084.7:p.Gly519= | |
| ENST00000359874.7:c.1557C>A | ENSP00000352936.3:p.Gly519= | |
| ENST00000398454.5:c.1557C>A | ENSP00000381472.1:p.Gly519= | |
| ENST00000507988.5:n.1721C>A | ||
| ENST00000508733.5:c.1500C>A | ENSP00000421519.1:p.Gly500= | |
| NM_001127698.1:c.1557C>A | NP_001121170.1:p.Gly519= | |
| NM_001127699.1:c.1557C>A | NP_001121171.1:p.Gly519= | |
| NM_006846.3:c.1557C>A , LRG_110t1:c.1557C>A | NP_006837.2:p.Gly519= | |
| XM_011537550.1:c.1500C>A | XP_011535852.1:p.Gly500= | |
| XM_011537551.1:c.1473C>A | XP_011535853.1:p.Gly491= | |
| XM_011537551.2:c.1473C>A | XP_011535853.1:p.Gly491= | |
| NM_001127698.2:c.1557C>A | NP_001121170.1:p.Gly519= | |
| NM_001127699.2:c.1557C>A | NP_001121171.1:p.Gly519= | |
| NM_006846.4:c.1557C>A MANE Select | NP_006837.2:p.Gly519= |