Linked Data
dbSNP Id:
rs548969377
gnomAD v2:
14-73150651-C-A
gnomAD v3:
14-72683943-C-A
gnomAD v4:
14-72683943-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.72683943C>A , CM000676.2:g.72683943C>A | GRCh38 |
| NC_000014.8:g.73150651C>A , CM000676.1:g.73150651C>A | GRCh37 |
| NC_000014.7:g.72220404C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546183.2:n.750+9133G>T | ||
| ENST00000556509.6:c.742+9133G>T MANE Select | ENSP00000450518.1:n.742+9133G>T | |
| ENST00000614862.5:c.772+9133G>T | ENSP00000481992.1:n.772+9133G>T | |
| ENST00000366353.8:c.907+9133G>T | ENSP00000381791.3:n.907+9133G>T | |
| ENST00000381216.8:c.742+9133G>T | ENSP00000370614.4:n.742+9133G>T | |
| ENST00000541685.5:c.742+9133G>T | ENSP00000441640.1:n.742+9133G>T | |
| ENST00000546183.1:c.772+9133G>T | ENSP00000444662.1:n.772+9133G>T | |
| ENST00000554594.1:n.220+9133G>T | ||
| ENST00000556238.5:n.356+9133G>T | ||
| ENST00000556509.5:c.742+9133G>T | ENSP00000450518.1:n.742+9133G>T | |
| ENST00000557704.5:n.454+9133G>T | ||
| ENST00000610283.4:c.907+9133G>T | ENSP00000479526.1:n.907+9133G>T | |
| ENST00000614862.4:c.772+9133G>T | ENSP00000481992.1:n.772+9133G>T | |
| NM_001280542.1:c.742+9133G>T | NP_001267471.1:n.742+9133G>T | |
| NM_001280543.1:c.772+9133G>T | NP_001267472.1:n.772+9133G>T | |
| NM_001280544.1:c.907+9133G>T | NP_001267473.1:n.907+9133G>T | |
| NM_012074.4:c.742+9133G>T | NP_036206.3:n.742+9133G>T | |
| XM_011537191.1:c.1000+9133G>T | XP_011535493.1:n.1000+9133G>T | |
| XM_011537192.1:c.1000+9133G>T | XP_011535494.1:n.1000+9133G>T | |
| XM_011537193.1:c.835+9133G>T | XP_011535495.1:n.835+9133G>T | |
| XM_017021670.2:c.742+9133G>T | XP_016877159.1:n.742+9133G>T | |
| XM_017021671.1:c.772+9133G>T | XP_016877160.1:n.772+9133G>T | |
| XM_017021672.1:c.772+9133G>T | XP_016877161.1:n.772+9133G>T | |
| XM_017021673.1:c.712+9133G>T | XP_016877162.1:n.712+9133G>T | |
| NM_012074.5:c.742+9133G>T | NP_036206.3:n.742+9133G>T | |
| NM_001280542.3:c.742+9133G>T MANE Select | NP_001267471.1:n.742+9133G>T | |
| NM_001280543.2:c.772+9133G>T | NP_001267472.1:n.772+9133G>T | |
| NM_001280544.2:c.907+9133G>T | NP_001267473.1:n.907+9133G>T |