Linked Data
ClinVar Variation Id:
386078
dbSNP Id:
rs774989333
ExAC:
9:94124037 C / T
gnomAD v2:
9-94124037-C-T
gnomAD v3:
9-91361755-C-T
gnomAD v4:
9-91361755-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91361755C>T , CM000671.2:g.91361755C>T | GRCh38 |
| NC_000009.11:g.94124037C>T , CM000671.1:g.94124037C>T | GRCh37 |
| NC_000009.10:g.93163858C>T | NCBI36 |
| NG_008017.1:g.5170G>A , LRG_449:g.5170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.135G>A MANE Select | ENSP00000364883.5:p.Ala45= | |
| ENST00000303617.5:c.135G>A | ENSP00000307334.5:p.Ala45= | |
| ENST00000375731.8:c.135G>A | ENSP00000364883.4:p.Ala45= | |
| ENST00000478465.5:n.133G>A | ||
| NM_001306190.1:c.135G>A | NP_001293119.1:p.Ala45= | |
| NM_001698.2:c.135G>A , LRG_449t1:c.135G>A | NP_001689.1:p.Ala45= | |
| XM_005252066.2:c.135G>A | XP_005252123.1:p.Ala45= | |
| XM_005252067.3:c.135G>A | XP_005252124.1:p.Ala45= | |
| XM_005252069.3:c.135G>A | XP_005252126.1:p.Ala45= | |
| XM_005252072.1:c.135G>A | XP_005252129.1:p.Ala45= | |
| XM_006717150.2:c.135G>A | XP_006717213.1:p.Ala45= | |
| XM_011518800.1:c.135G>A | XP_011517102.1:p.Ala45= | |
| XM_011518803.1:c.135G>A | XP_011517105.1:p.Ala45= | |
| XM_011518804.1:c.135G>A | XP_011517106.1:p.Ala45= | |
| XR_929814.1:n.185G>A | ||
| NM_001351431.1:c.-263G>A | NP_001338360.1:n.-263G>A | |
| NM_001351432.1:c.-355G>A | NP_001338361.1:n.-355G>A | |
| NM_001351433.1:c.-263G>A | NP_001338362.1:n.-263G>A | |
| XM_005252066.3:c.135G>A | XP_005252123.1:p.Ala45= | |
| XM_005252067.4:c.135G>A | XP_005252124.1:p.Ala45= | |
| XM_005252069.4:c.135G>A | XP_005252126.1:p.Ala45= | |
| XM_005252072.2:c.135G>A | XP_005252129.1:p.Ala45= | |
| XM_006717150.3:c.135G>A | XP_006717213.1:p.Ala45= | |
| XM_011518800.3:c.135G>A | XP_011517102.1:p.Ala45= | |
| XM_011518803.2:c.135G>A | XP_011517105.1:p.Ala45= | |
| XM_017014849.1:c.135G>A | XP_016870338.1:p.Ala45= | |
| XR_001746328.2:n.188G>A | ||
| XR_001746329.2:n.170G>A | ||
| NM_001698.3:c.135G>A MANE Select | NP_001689.1:p.Ala45= | |
| NM_001306190.2:c.135G>A | NP_001293119.1:p.Ala45= | |
| NM_001351431.2:c.-263G>A | NP_001338360.1:n.-263G>A | |
| NM_001351432.2:c.-355G>A | NP_001338361.1:n.-355G>A | |
| NM_001351433.2:c.-263G>A | NP_001338362.1:n.-263G>A |