Linked Data
ClinVar Variation Id:
385807
dbSNP Id:
rs759369259
ExAC:
9:94118448 G / A
gnomAD v2:
9-94118448-G-A
gnomAD v4:
9-91356166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91356166G>A , CM000671.2:g.91356166G>A | GRCh38 |
| NC_000009.11:g.94118448G>A , CM000671.1:g.94118448G>A | GRCh37 |
| NC_000009.10:g.93158269G>A | NCBI36 |
| NG_008017.1:g.10759C>T , LRG_449:g.10759C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.263-11C>T MANE Select | ENSP00000364883.5:n.263-11C>T | |
| ENST00000303617.5:c.263-11C>T | ENSP00000307334.5:n.263-11C>T | |
| ENST00000375731.8:c.263-11C>T | ENSP00000364883.4:n.263-11C>T | |
| ENST00000478465.5:n.423-11C>T | ||
| NM_001306190.1:c.263-11C>T | NP_001293119.1:n.263-11C>T | |
| NM_001698.2:c.263-11C>T , LRG_449t1:c.263-11C>T | NP_001689.1:n.263-11C>T | |
| XM_005252066.2:c.293-11C>T | XP_005252123.1:n.293-11C>T | |
| XM_005252067.3:c.293-11C>T | XP_005252124.1:n.293-11C>T | |
| XM_005252069.3:c.293-11C>T | XP_005252126.1:n.293-11C>T | |
| XM_005252072.1:c.263-11C>T | XP_005252129.1:n.263-11C>T | |
| XM_006717150.2:c.293-11C>T | XP_006717213.1:n.293-11C>T | |
| XM_011518800.1:c.293-11C>T | XP_011517102.1:n.293-11C>T | |
| XM_011518802.1:c.-65-11C>T | XP_011517104.1:n.-65-11C>T | |
| XM_011518803.1:c.293-11C>T | XP_011517105.1:n.293-11C>T | |
| XM_011518804.1:c.263-11C>T | XP_011517106.1:n.263-11C>T | |
| XR_929814.1:n.343-11C>T | ||
| NM_001351431.1:c.-65-11C>T | NP_001338360.1:n.-65-11C>T | |
| NM_001351432.1:c.-65-11C>T | NP_001338361.1:n.-65-11C>T | |
| NM_001351433.1:c.-65-11C>T | NP_001338362.1:n.-65-11C>T | |
| XM_005252066.3:c.293-11C>T | XP_005252123.1:n.293-11C>T | |
| XM_005252067.4:c.293-11C>T | XP_005252124.1:n.293-11C>T | |
| XM_005252069.4:c.293-11C>T | XP_005252126.1:n.293-11C>T | |
| XM_005252072.2:c.263-11C>T | XP_005252129.1:n.263-11C>T | |
| XM_006717150.3:c.293-11C>T | XP_006717213.1:n.293-11C>T | |
| XM_011518800.3:c.293-11C>T | XP_011517102.1:n.293-11C>T | |
| XM_011518803.2:c.293-11C>T | XP_011517105.1:n.293-11C>T | |
| XM_017014849.1:c.263-11C>T | XP_016870338.1:n.263-11C>T | |
| XR_001746328.2:n.346-11C>T | ||
| XR_001746329.2:n.298-11C>T | ||
| NM_001698.3:c.263-11C>T MANE Select | NP_001689.1:n.263-11C>T | |
| NM_001306190.2:c.263-11C>T | NP_001293119.1:n.263-11C>T | |
| NM_001351431.2:c.-65-11C>T | NP_001338360.1:n.-65-11C>T | |
| NM_001351432.2:c.-65-11C>T | NP_001338361.1:n.-65-11C>T | |
| NM_001351433.2:c.-65-11C>T | NP_001338362.1:n.-65-11C>T |