Linked Data
dbSNP Id:
rs764416401
ExAC:
9:139412433 C / A
gnomAD v2:
9-139412433-C-A
gnomAD v4:
9-136517981-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136517981C>A , CM000671.2:g.136517981C>A | GRCh38 |
| NC_000009.11:g.139412433C>A , CM000671.1:g.139412433C>A | GRCh37 |
| NC_000009.10:g.138532254C>A | NCBI36 |
| NG_007458.1:g.32806G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.1256-44G>T MANE Select | ENSP00000498587.1:n.1256-44G>T | |
| ENST00000679595.1:c.1256-44G>T | ENSP00000506241.1:n.1256-44G>T | |
| ENST00000680133.1:c.1256-44G>T | ENSP00000505319.1:n.1256-44G>T | |
| ENST00000680218.1:c.1256-44G>T | ENSP00000505339.1:n.1256-44G>T | |
| ENST00000680668.1:c.1256-44G>T | ENSP00000506336.1:n.1256-44G>T | |
| ENST00000680924.1:c.1256-44G>T | ENSP00000506031.1:n.1256-44G>T | |
| ENST00000681135.1:c.1256-44G>T | ENSP00000506636.1:n.1256-44G>T | |
| ENST00000681454.1:c.*492-44G>T | ENSP00000505763.1:n.*492-44G>T | |
| ENST00000277541.6:c.1256-44G>T | ENSP00000277541.6:n.1256-44G>T | |
| NM_017617.3:c.1256-44G>T | NP_060087.3:n.1256-44G>T | |
| XM_011518717.1:c.557-44G>T | XP_011517019.1:n.557-44G>T | |
| NM_017617.5:c.1256-44G>T MANE Select | NP_060087.3:n.1256-44G>T | |
| XM_011518717.2:c.533-44G>T | XP_011517019.2:n.533-44G>T |