Linked Data
ClinVar Variation Id:
2776944
ClinVar RCV Id:
RCV003665025
dbSNP Id:
rs747978300
ExAC:
5:90041438 G / A
gnomAD v2:
5-90041438-G-A
gnomAD v4:
5-90745621-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745621G>A , CM000667.2:g.90745621G>A | GRCh38 |
| NC_000005.9:g.90041438G>A , CM000667.1:g.90041438G>A | GRCh37 |
| NC_000005.8:g.90077194G>A | NCBI36 |
| NG_007083.1:g.191822G>A | |
| NG_007083.2:g.221278G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10800G>A MANE Select | ENSP00000384582.2:p.Glu3600= | |
| ENST00000639431.1:c.265+69412G>A | ENSP00000491057.1:n.265+69412G>A | |
| ENST00000640374.1:n.3944G>A | ||
| ENST00000640464.1:n.1219G>A | ||
| ENST00000405460.6:c.10800G>A | ENSP00000384582.2:p.Glu3600= | |
| ENST00000509621.1:c.3497G>A | ||
| NM_032119.3:c.10800G>A | NP_115495.3:p.Glu3600= | |
| NR_003149.1:n.10813G>A | ||
| XM_011543675.1:c.10797G>A | XP_011541977.1:p.Glu3599= | |
| XM_011543676.1:c.10719G>A | XP_011541978.1:p.Glu3573= | |
| XM_011543677.1:c.8103G>A | XP_011541979.1:p.Glu2701= | |
| XM_011543678.1:c.10800G>A | XP_011541980.1:p.Glu3600= | |
| XM_011543679.1:c.*22G>A | XP_011541981.1:n.*22G>A | |
| NM_032119.4:c.10800G>A MANE Select | NP_115495.3:p.Glu3600= | |
| XM_017009963.2:c.10821G>A | XP_016865452.1:p.Glu3607= | |
| XM_017009964.2:c.10818G>A | XP_016865453.1:p.Glu3606= | |
| XM_017009965.1:c.10818G>A | XP_016865454.1:p.Glu3606= | |
| XM_017009966.2:c.10740G>A | XP_016865455.1:p.Glu3580= | |
| XM_017009967.1:c.10725G>A | XP_016865456.1:p.Glu3575= | |
| XM_017009968.2:c.10821G>A | XP_016865457.1:p.Glu3607= | |
| XM_017009969.2:c.10821G>A | XP_016865458.1:p.Glu3607= | |
| XM_017009970.2:c.10821G>A | XP_016865459.1:p.Glu3607= | |
| XM_017009971.2:c.10821G>A | XP_016865460.1:p.Glu3607= | |
| XM_017009972.1:c.3939G>A | XP_016865461.1:p.Glu1313= | |
| XM_017009973.1:c.3918G>A | XP_016865462.1:p.Glu1306= | |
| XM_017009974.2:c.*22G>A | XP_016865463.1:n.*22G>A | |
| NR_003149.2:n.10816G>A |