Linked Data
dbSNP Id:
rs2222631
gnomAD v2:
3-119272391-G-A
gnomAD v3:
3-119553544-G-A
gnomAD v4:
3-119553544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119553544G>A , CM000665.2:g.119553544G>A | GRCh38 |
| NC_000003.11:g.119272391G>A , CM000665.1:g.119272391G>A | GRCh37 |
| NC_000003.10:g.120755081G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264246.8:c.100+4085C>T MANE Select | ENSP00000264246.3:n.100+4085C>T | |
| ENST00000264246.7:c.100+4085C>T | ENSP00000264246.3:n.100+4085C>T | |
| ENST00000383669.3:c.100+4085C>T | ENSP00000373165.3:n.100+4085C>T | |
| ENST00000463729.1:n.212+4085C>T | ||
| ENST00000478182.5:c.100+4085C>T | ENSP00000418364.1:n.100+4085C>T | |
| NM_005191.3:c.100+4085C>T | NP_005182.1:n.100+4085C>T | |
| XM_011513325.1:c.100+4085C>T | XP_011511627.1:n.100+4085C>T | |
| XM_011513326.1:c.100+4085C>T | XP_011511628.1:n.100+4085C>T | |
| XM_011513327.1:c.-114+1997C>T | XP_011511629.1:n.-114+1997C>T | |
| XM_011513327.2:c.-114+1997C>T | XP_011511629.1:n.-114+1997C>T | |
| XM_017007520.2:c.100+4085C>T | XP_016863009.1:n.100+4085C>T | |
| NM_005191.4:c.100+4085C>T MANE Select | NP_005182.1:n.100+4085C>T |