Linked Data
dbSNP Id:
rs779624376
ExAC:
5:90041420 G / A
gnomAD v2:
5-90041420-G-A
gnomAD v4:
5-90745603-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745603G>A , CM000667.2:g.90745603G>A | GRCh38 |
| NC_000005.9:g.90041420G>A , CM000667.1:g.90041420G>A | GRCh37 |
| NC_000005.8:g.90077176G>A | NCBI36 |
| NG_007083.1:g.191804G>A | |
| NG_007083.2:g.221260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10782G>A MANE Select | ENSP00000384582.2:p.Leu3594= | |
| ENST00000639431.1:c.265+69394G>A | ENSP00000491057.1:n.265+69394G>A | |
| ENST00000640374.1:n.3926G>A | ||
| ENST00000640464.1:n.1201G>A | ||
| ENST00000405460.6:c.10782G>A | ENSP00000384582.2:p.Leu3594= | |
| ENST00000509621.1:c.3479G>A | ||
| NM_032119.3:c.10782G>A | NP_115495.3:p.Leu3594= | |
| NR_003149.1:n.10795G>A | ||
| XM_011543675.1:c.10779G>A | XP_011541977.1:p.Leu3593= | |
| XM_011543676.1:c.10701G>A | XP_011541978.1:p.Leu3567= | |
| XM_011543677.1:c.8085G>A | XP_011541979.1:p.Leu2695= | |
| XM_011543678.1:c.10782G>A | XP_011541980.1:p.Leu3594= | |
| XM_011543679.1:c.*4G>A | XP_011541981.1:n.*4G>A | |
| NM_032119.4:c.10782G>A MANE Select | NP_115495.3:p.Leu3594= | |
| XM_017009963.2:c.10803G>A | XP_016865452.1:p.Leu3601= | |
| XM_017009964.2:c.10800G>A | XP_016865453.1:p.Leu3600= | |
| XM_017009965.1:c.10800G>A | XP_016865454.1:p.Leu3600= | |
| XM_017009966.2:c.10722G>A | XP_016865455.1:p.Leu3574= | |
| XM_017009967.1:c.10707G>A | XP_016865456.1:p.Leu3569= | |
| XM_017009968.2:c.10803G>A | XP_016865457.1:p.Leu3601= | |
| XM_017009969.2:c.10803G>A | XP_016865458.1:p.Leu3601= | |
| XM_017009970.2:c.10803G>A | XP_016865459.1:p.Leu3601= | |
| XM_017009971.2:c.10803G>A | XP_016865460.1:p.Leu3601= | |
| XM_017009972.1:c.3921G>A | XP_016865461.1:p.Leu1307= | |
| XM_017009973.1:c.3900G>A | XP_016865462.1:p.Leu1300= | |
| XM_017009974.2:c.*4G>A | XP_016865463.1:n.*4G>A | |
| NR_003149.2:n.10798G>A |