Linked Data
ClinVar Variation Id:
226644
dbSNP Id:
rs117641264
ExAC:
5:90087112 G / A
gnomAD v2:
5-90087112-G-A
gnomAD v3:
5-90791295-G-A
gnomAD v4:
5-90791295-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90791295G>A , CM000667.2:g.90791295G>A | GRCh38 |
| NC_000005.9:g.90087112G>A , CM000667.1:g.90087112G>A | GRCh37 |
| NC_000005.8:g.90122868G>A | NCBI36 |
| NG_007083.1:g.237496G>A | |
| NG_007083.2:g.266952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14466G>A MANE Select | ENSP00000384582.2:p.Val4822= | |
| ENST00000425867.3:c.3420G>A | ENSP00000392618.3:p.Val1140= | |
| ENST00000507314.2:c.141G>A | ENSP00000491299.1:p.Val47= | |
| ENST00000638510.1:n.1733G>A | ||
| ENST00000638585.1:n.232G>A | ||
| ENST00000638975.1:c.1095G>A | ENSP00000492630.1:p.Val365= | |
| ENST00000639431.1:c.265+115086G>A | ENSP00000491057.1:n.265+115086G>A | |
| ENST00000640407.1:c.876G>A | ENSP00000491425.1:p.Val292= | |
| ENST00000405460.6:c.14466G>A | ENSP00000384582.2:p.Val4822= | |
| ENST00000425867.2:c.1449G>A | ENSP00000392618.2:p.Val483= | |
| ENST00000507314.1:n.141G>A | ||
| NM_032119.3:c.14466G>A | NP_115495.3:p.Val4822= | |
| NR_003149.1:n.14479G>A | ||
| XM_011543675.1:c.14463G>A | XP_011541977.1:p.Val4821= | |
| XM_011543676.1:c.14385G>A | XP_011541978.1:p.Val4795= | |
| XM_011543677.1:c.11769G>A | XP_011541979.1:p.Val3923= | |
| XM_011543678.1:c.14466G>A | XP_011541980.1:p.Val4822= | |
| NM_032119.4:c.14466G>A MANE Select | NP_115495.3:p.Val4822= | |
| XM_017009963.2:c.14487G>A | XP_016865452.1:p.Val4829= | |
| XM_017009964.2:c.14484G>A | XP_016865453.1:p.Val4828= | |
| XM_017009965.1:c.14484G>A | XP_016865454.1:p.Val4828= | |
| XM_017009966.2:c.14406G>A | XP_016865455.1:p.Val4802= | |
| XM_017009967.1:c.14391G>A | XP_016865456.1:p.Val4797= | |
| XM_017009968.2:c.14487G>A | XP_016865457.1:p.Val4829= | |
| XM_017009969.2:c.14487G>A | XP_016865458.1:p.Val4829= | |
| XM_017009970.2:c.14487G>A | XP_016865459.1:p.Val4829= | |
| XM_017009971.2:c.14487G>A | XP_016865460.1:p.Val4829= | |
| XM_017009972.1:c.7605G>A | XP_016865461.1:p.Val2535= | |
| XM_017009973.1:c.7584G>A | XP_016865462.1:p.Val2528= | |
| NR_003149.2:n.14482G>A |