Linked Data
dbSNP Id:
rs758642
gnomAD v2:
17-3786907-G-A
gnomAD v3:
17-3883613-G-A
gnomAD v4:
17-3883613-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3883613G>A , CM000679.2:g.3883613G>A | GRCh38 |
| NC_000017.10:g.3786907G>A , CM000679.1:g.3786907G>A | GRCh37 |
| NC_000017.9:g.3733656G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348335.7:c.463-133C>T MANE Select | ENSP00000323118.3:n.463-133C>T | |
| ENST00000158166.5:c.463-133C>T | ENSP00000158166.5:n.463-133C>T | |
| ENST00000348335.6:c.463-133C>T | ENSP00000323118.3:n.463-133C>T | |
| ENST00000381769.6:c.544-133C>T | ENSP00000371188.2:n.544-133C>T | |
| ENST00000573483.1:n.1171-133C>T | ||
| NM_032294.2:c.463-133C>T | NP_115670.1:n.463-133C>T | |
| NM_172206.1:c.463-133C>T | NP_757343.1:n.463-133C>T | |
| NM_172207.2:c.463-133C>T | NP_757344.2:n.463-133C>T | |
| XM_005256817.1:c.463-133C>T | XP_005256874.1:n.463-133C>T | |
| XM_006721588.2:c.463-133C>T | XP_006721651.1:n.463-133C>T | |
| XM_011524030.1:c.463-133C>T | XP_011522332.1:n.463-133C>T | |
| XM_011524031.1:c.463-133C>T | XP_011522333.1:n.463-133C>T | |
| XM_011524032.1:c.544-133C>T | XP_011522334.1:n.544-133C>T | |
| XM_011524033.1:c.-274-133C>T | XP_011522335.1:n.-274-133C>T | |
| XR_934115.1:n.591-133C>T | ||
| XM_006721588.3:c.463-133C>T | XP_006721651.1:n.463-133C>T | |
| XM_011524031.3:c.544-133C>T | XP_011522333.2:n.544-133C>T | |
| XM_011524032.3:c.544-133C>T | XP_011522334.1:n.544-133C>T | |
| XM_011524035.3:c.-747-133C>T | XP_011522337.1:n.-747-133C>T | |
| XM_017025220.2:c.463-133C>T | XP_016880709.1:n.463-133C>T | |
| XM_024450996.1:c.544-133C>T | XP_024306764.1:n.544-133C>T | |
| XM_024450997.1:c.-251-133C>T | XP_024306765.1:n.-251-133C>T | |
| XM_024450998.1:c.-1259-133C>T | XP_024306766.1:n.-1259-133C>T | |
| XM_024450999.1:c.-483-133C>T | XP_024306767.1:n.-483-133C>T | |
| XR_001752661.2:n.775-133C>T | ||
| XR_001752662.2:n.2071-133C>T | ||
| NM_032294.3:c.463-133C>T MANE Select | NP_115670.1:n.463-133C>T | |
| NM_172206.2:c.544-133C>T | NP_757343.2:n.544-133C>T | |
| NM_172207.3:c.463-133C>T | NP_757344.2:n.463-133C>T |