Linked Data
dbSNP Id:
rs556525057
gnomAD v2:
5-90209734-A-G
gnomAD v3:
5-90913917-A-G
gnomAD v4:
5-90913917-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90913917A>G , CM000667.2:g.90913917A>G | GRCh38 |
| NC_000005.9:g.90209734A>G , CM000667.1:g.90209734A>G | GRCh37 |
| NC_000005.8:g.90245490A>G | NCBI36 |
| NG_007083.1:g.360118A>G | |
| NG_007083.2:g.389574A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.17856+50060A>G MANE Select | ENSP00000384582.2:n.17856+50060A>G | |
| ENST00000425867.3:c.6810+50060A>G | ENSP00000392618.3:n.6810+50060A>G | |
| ENST00000638510.1:n.5123+50060A>G | ||
| ENST00000638990.1:c.1068+50060A>G | ||
| ENST00000639431.1:c.266-71427A>G | ENSP00000491057.1:n.266-71427A>G | |
| ENST00000640407.1:c.4305+50060A>G | ENSP00000491425.1:n.4305+50060A>G | |
| ENST00000640815.1:c.-61+14594A>G | ENSP00000491767.1:n.-61+14594A>G | |
| ENST00000405460.6:c.17856+50060A>G | ENSP00000384582.2:n.17856+50060A>G | |
| ENST00000425867.2:c.4839+50060A>G | ENSP00000392618.2:n.4839+50060A>G | |
| NM_032119.3:c.17856+50060A>G | NP_115495.3:n.17856+50060A>G | |
| NR_003149.1:n.17869+50060A>G | ||
| XM_011543675.1:c.17853+50060A>G | XP_011541977.1:n.17853+50060A>G | |
| XM_011543676.1:c.17775+50060A>G | XP_011541978.1:n.17775+50060A>G | |
| XM_011543677.1:c.15159+50060A>G | XP_011541979.1:n.15159+50060A>G | |
| NM_032119.4:c.17856+50060A>G MANE Select | NP_115495.3:n.17856+50060A>G | |
| XM_017009963.2:c.17877+50060A>G | XP_016865452.1:n.17877+50060A>G | |
| XM_017009964.2:c.17874+50060A>G | XP_016865453.1:n.17874+50060A>G | |
| XM_017009965.1:c.17874+50060A>G | XP_016865454.1:n.17874+50060A>G | |
| XM_017009966.2:c.17796+50060A>G | XP_016865455.1:n.17796+50060A>G | |
| XM_017009967.1:c.17781+50060A>G | XP_016865456.1:n.17781+50060A>G | |
| XM_017009968.2:c.17697+50060A>G | XP_016865457.1:n.17697+50060A>G | |
| XM_017009969.2:c.17877+50060A>G | XP_016865458.1:n.17877+50060A>G | |
| XM_017009972.1:c.10995+50060A>G | XP_016865461.1:n.10995+50060A>G | |
| XM_017009973.1:c.10974+50060A>G | XP_016865462.1:n.10974+50060A>G | |
| NR_003149.2:n.17872+50060A>G |