Linked Data
dbSNP Id:
rs10070102
gnomAD v2:
5-31532878-C-A
gnomAD v3:
5-31532771-C-A
gnomAD v4:
5-31532771-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.31532771C>A , CM000667.2:g.31532771C>A | GRCh38 |
| NC_000005.9:g.31532878C>A , CM000667.1:g.31532878C>A | GRCh37 |
| NC_000005.8:g.31568635C>A | NCBI36 |
| NG_051574.1:g.4405G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325366.14:c.81+298C>A MANE Select | ENSP00000326879.9:n.81+298C>A | |
| ENST00000325366.13:c.81+298C>A | ENSP00000326879.9:n.81+298C>A | |
| ENST00000504464.5:c.81+298C>A | ENSP00000430261.1:n.81+298C>A | |
| ENST00000507818.6:c.81+298C>A | ENSP00000430860.1:n.81+298C>A | |
| ENST00000510659.5:c.81+298C>A | ENSP00000423039.1:n.81+298C>A | |
| ENST00000511208.2:c.81+298C>A | ENSP00000428898.1:n.81+298C>A | |
| ENST00000513967.5:c.81+298C>A | ENSP00000421667.1:n.81+298C>A | |
| ENST00000515409.5:n.179+298C>A | ||
| ENST00000517780.1:n.179+298C>A | ||
| NM_018356.2:c.81+298C>A | NP_060826.2:n.81+298C>A | |
| XM_005248319.2:c.-491+298C>A | XP_005248376.1:n.-491+298C>A | |
| XM_006714479.1:c.-80+298C>A | XP_006714542.1:n.-80+298C>A | |
| XM_006714480.2:c.-402+298C>A | XP_006714543.1:n.-402+298C>A | |
| XM_011514062.1:c.81+298C>A | XP_011512364.1:n.81+298C>A | |
| NR_134298.1:n.208+298C>A | ||
| XM_006714479.2:c.-80+298C>A | XP_006714542.1:n.-80+298C>A | |
| XM_006714480.3:c.-402+298C>A | XP_006714543.1:n.-402+298C>A | |
| XM_011514062.3:c.81+298C>A | XP_011512364.1:n.81+298C>A | |
| XM_017009607.1:c.81+298C>A | XP_016865096.1:n.81+298C>A | |
| XM_017009608.2:c.81+298C>A | XP_016865097.1:n.81+298C>A | |
| XM_017009609.1:c.-80+298C>A | XP_016865098.1:n.-80+298C>A | |
| XM_017009610.1:c.-494+298C>A | XP_016865099.1:n.-494+298C>A | |
| XM_017009611.2:c.-491+298C>A | XP_016865100.1:n.-491+298C>A | |
| XM_017009612.2:c.-402+298C>A | XP_016865101.1:n.-402+298C>A | |
| XM_017009613.2:c.-494+298C>A | XP_016865102.1:n.-494+298C>A | |
| XM_017009614.1:c.-587+298C>A | XP_016865103.1:n.-587+298C>A | |
| XM_017009615.1:c.-495+298C>A | XP_016865104.1:n.-495+298C>A | |
| XM_017009616.1:c.-399+298C>A | XP_016865105.1:n.-399+298C>A | |
| NM_018356.3:c.81+298C>A MANE Select | NP_060826.2:n.81+298C>A | |
| NR_134298.2:n.173+298C>A |