Linked Data
ClinVar Variation Id:
2760810
ClinVar RCV Id:
RCV003572300
dbSNP Id:
rs1423915583
gnomAD v2:
5-90012494-A-G
gnomAD v4:
5-90716677-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90716677A>G , CM000667.2:g.90716677A>G | GRCh38 |
| NC_000005.9:g.90012494A>G , CM000667.1:g.90012494A>G | GRCh37 |
| NC_000005.8:g.90048250A>G | NCBI36 |
| NG_007083.1:g.162878A>G | |
| NG_007083.2:g.192334A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9395A>G MANE Select | ENSP00000384582.2:p.Asp3132Gly | |
| ENST00000639431.1:c.265+40468A>G | ENSP00000491057.1:n.265+40468A>G | |
| ENST00000639473.1:n.4854A>G | ||
| ENST00000640012.1:c.3202A>G | ||
| ENST00000640374.1:n.2539A>G | ||
| ENST00000640779.1:c.4124A>G | ||
| ENST00000405460.6:c.9395A>G | ENSP00000384582.2:p.Asp3132Gly | |
| ENST00000509621.1:c.2092A>G | ||
| NM_032119.3:c.9395A>G | NP_115495.3:p.Asp3132Gly | |
| NR_003149.1:n.9408A>G | ||
| XM_011543675.1:c.9392A>G | XP_011541977.1:p.Asp3131Gly | |
| XM_011543676.1:c.9314A>G | XP_011541978.1:p.Asp3105Gly | |
| XM_011543677.1:c.6698A>G | XP_011541979.1:p.Asp2233Gly | |
| XM_011543678.1:c.9395A>G | XP_011541980.1:p.Asp3132Gly | |
| XM_011543679.1:c.9395A>G | XP_011541981.1:p.Asp3132Gly | |
| XR_948560.1:n.272-868T>C | ||
| NM_032119.4:c.9395A>G MANE Select | NP_115495.3:p.Asp3132Gly | |
| XM_017009963.2:c.9416A>G | XP_016865452.1:p.Asp3139Gly | |
| XM_017009964.2:c.9413A>G | XP_016865453.1:p.Asp3138Gly | |
| XM_017009965.1:c.9413A>G | XP_016865454.1:p.Asp3138Gly | |
| XM_017009966.2:c.9335A>G | XP_016865455.1:p.Asp3112Gly | |
| XM_017009967.1:c.9320A>G | XP_016865456.1:p.Asp3107Gly | |
| XM_017009968.2:c.9416A>G | XP_016865457.1:p.Asp3139Gly | |
| XM_017009969.2:c.9416A>G | XP_016865458.1:p.Asp3139Gly | |
| XM_017009970.2:c.9416A>G | XP_016865459.1:p.Asp3139Gly | |
| XM_017009971.2:c.9416A>G | XP_016865460.1:p.Asp3139Gly | |
| XM_017009972.1:c.2534A>G | XP_016865461.1:p.Asp845Gly | |
| XM_017009973.1:c.2513A>G | XP_016865462.1:p.Asp838Gly | |
| XM_017009974.2:c.9416A>G | XP_016865463.1:p.Asp3139Gly | |
| XR_001742802.1:n.2523-868T>C | ||
| NR_003149.2:n.9411A>G |