Linked Data
dbSNP Id:
rs7008482
gnomAD v2:
8-126267630-T-G
gnomAD v3:
8-125255388-T-G
gnomAD v4:
8-125255388-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125255388T>G , CM000670.2:g.125255388T>G | GRCh38 |
| NC_000008.10:g.126267630T>G , CM000670.1:g.126267630T>G | GRCh37 |
| NC_000008.9:g.126336812T>G | NCBI36 |
| NG_053069.1:g.168571T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287437.8:c.418+73132T>G MANE Select | ENSP00000287437.3:n.418+73132T>G | |
| ENST00000287437.7:c.418+73132T>G | ENSP00000287437.3:n.418+73132T>G | |
| ENST00000517315.1:c.238+73132T>G | ENSP00000428846.1:n.238+73132T>G | |
| ENST00000517532.5:c.418+73132T>G | ENSP00000429612.1:n.418+73132T>G | |
| ENST00000522563.5:c.418+73132T>G | ENSP00000430668.1:n.418+73132T>G | |
| NM_173685.2:c.418+73132T>G | NP_775956.1:n.418+73132T>G | |
| XM_005250875.2:c.418+73132T>G | XP_005250932.1:n.418+73132T>G | |
| XM_005250876.3:c.418+73132T>G | XP_005250933.1:n.418+73132T>G | |
| XM_011516974.1:c.418+73132T>G | XP_011515276.1:n.418+73132T>G | |
| XM_011516975.1:c.418+73132T>G | XP_011515277.1:n.418+73132T>G | |
| NM_001349485.1:c.418+73132T>G | NP_001336414.1:n.418+73132T>G | |
| NM_001349486.1:c.418+73132T>G | NP_001336415.1:n.418+73132T>G | |
| NM_173685.3:c.418+73132T>G | NP_775956.1:n.418+73132T>G | |
| NR_146191.1:n.800+73132T>G | ||
| XM_011516974.2:c.418+73132T>G | XP_011515276.1:n.418+73132T>G | |
| XM_011516975.2:c.418+73132T>G | XP_011515277.1:n.418+73132T>G | |
| XM_017013330.2:c.424+73132T>G | XP_016868819.1:n.424+73132T>G | |
| XM_017013331.1:c.418+73132T>G | XP_016868820.1:n.418+73132T>G | |
| XM_017013332.2:c.424+73132T>G | XP_016868821.1:n.424+73132T>G | |
| XM_017013333.1:c.238+73132T>G | XP_016868822.1:n.238+73132T>G | |
| XM_024447130.1:c.418+73132T>G | XP_024302898.1:n.418+73132T>G | |
| NM_173685.4:c.418+73132T>G MANE Select | NP_775956.1:n.418+73132T>G | |
| NM_001349485.2:c.418+73132T>G | NP_001336414.1:n.418+73132T>G | |
| NM_001349486.2:c.418+73132T>G | NP_001336415.1:n.418+73132T>G | |
| NR_146191.2:n.763+73132T>G |