Linked Data
dbSNP Id:
rs1754543051
gnomAD v3:
5-90745674-A-T
gnomAD v4:
5-90745674-A-T
COSMIC:
COSM4451155
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745674A>T , CM000667.2:g.90745674A>T | GRCh38 |
| NC_000005.9:g.90041491A>T , CM000667.1:g.90041491A>T | GRCh37 |
| NC_000005.8:g.90077247A>T | NCBI36 |
| NG_007083.1:g.191875A>T | |
| NG_007083.2:g.221331A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10853A>T MANE Select | ENSP00000384582.2:p.Glu3618Val | |
| ENST00000639431.1:c.265+69465A>T | ENSP00000491057.1:n.265+69465A>T | |
| ENST00000640374.1:n.3997A>T | ||
| ENST00000640464.1:n.1272A>T | ||
| ENST00000405460.6:c.10853A>T | ENSP00000384582.2:p.Glu3618Val | |
| ENST00000509621.1:c.3550A>T | ||
| NM_032119.3:c.10853A>T | NP_115495.3:p.Glu3618Val | |
| NR_003149.1:n.10866A>T | ||
| XM_011543675.1:c.10850A>T | XP_011541977.1:p.Glu3617Val | |
| XM_011543676.1:c.10772A>T | XP_011541978.1:p.Glu3591Val | |
| XM_011543677.1:c.8156A>T | XP_011541979.1:p.Glu2719Val | |
| XM_011543678.1:c.10853A>T | XP_011541980.1:p.Glu3618Val | |
| XM_011543679.1:c.*75A>T | XP_011541981.1:n.*75A>T | |
| NM_032119.4:c.10853A>T MANE Select | NP_115495.3:p.Glu3618Val | |
| XM_017009963.2:c.10874A>T | XP_016865452.1:p.Glu3625Val | |
| XM_017009964.2:c.10871A>T | XP_016865453.1:p.Glu3624Val | |
| XM_017009965.1:c.10871A>T | XP_016865454.1:p.Glu3624Val | |
| XM_017009966.2:c.10793A>T | XP_016865455.1:p.Glu3598Val | |
| XM_017009967.1:c.10778A>T | XP_016865456.1:p.Glu3593Val | |
| XM_017009968.2:c.10874A>T | XP_016865457.1:p.Glu3625Val | |
| XM_017009969.2:c.10874A>T | XP_016865458.1:p.Glu3625Val | |
| XM_017009970.2:c.10874A>T | XP_016865459.1:p.Glu3625Val | |
| XM_017009971.2:c.10874A>T | XP_016865460.1:p.Glu3625Val | |
| XM_017009972.1:c.3992A>T | XP_016865461.1:p.Glu1331Val | |
| XM_017009973.1:c.3971A>T | XP_016865462.1:p.Glu1324Val | |
| XM_017009974.2:c.*75A>T | XP_016865463.1:n.*75A>T | |
| NR_003149.2:n.10869A>T |