Linked Data
ClinVar Variation Id:
1588156
ClinVar RCV Id:
RCV002095896
dbSNP Id:
rs527697043
ExAC:
5:89923033 A / G
gnomAD v2:
5-89923033-A-G
gnomAD v3:
5-90627216-A-G
gnomAD v4:
5-90627216-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90627216A>G , CM000667.2:g.90627216A>G | GRCh38 |
| NC_000005.9:g.89923033A>G , CM000667.1:g.89923033A>G | GRCh37 |
| NC_000005.8:g.89958789A>G | NCBI36 |
| NG_007083.1:g.73417A>G | |
| NG_007083.2:g.102873A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.678A>G MANE Select | ENSP00000384582.2:p.Pro226= | |
| ENST00000640083.1:n.383A>G | ||
| ENST00000640109.1:n.774A>G | ||
| ENST00000640281.1:n.737A>G | ||
| ENST00000405460.6:c.678A>G | ENSP00000384582.2:p.Pro226= | |
| NM_032119.3:c.678A>G | NP_115495.3:p.Pro226= | |
| NR_003149.1:n.774A>G | ||
| XM_011543675.1:c.678A>G | XP_011541977.1:p.Pro226= | |
| XM_011543676.1:c.678A>G | XP_011541978.1:p.Pro226= | |
| XM_011543678.1:c.678A>G | XP_011541980.1:p.Pro226= | |
| XM_011543679.1:c.678A>G | XP_011541981.1:p.Pro226= | |
| NM_032119.4:c.678A>G MANE Select | NP_115495.3:p.Pro226= | |
| XM_017009963.2:c.678A>G | XP_016865452.1:p.Pro226= | |
| XM_017009964.2:c.678A>G | XP_016865453.1:p.Pro226= | |
| XM_017009965.1:c.675A>G | XP_016865454.1:p.Pro225= | |
| XM_017009966.2:c.678A>G | XP_016865455.1:p.Pro226= | |
| XM_017009967.1:c.582A>G | XP_016865456.1:p.Pro194= | |
| XM_017009968.2:c.678A>G | XP_016865457.1:p.Pro226= | |
| XM_017009969.2:c.678A>G | XP_016865458.1:p.Pro226= | |
| XM_017009970.2:c.678A>G | XP_016865459.1:p.Pro226= | |
| XM_017009971.2:c.678A>G | XP_016865460.1:p.Pro226= | |
| XM_017009974.2:c.678A>G | XP_016865463.1:p.Pro226= | |
| NR_003149.2:n.777A>G |