Linked Data
ClinVar Variation Id:
328767
dbSNP Id:
rs142721539
ExAC:
19:33355587 A / T
gnomAD v2:
19-33355587-A-T
gnomAD v3:
19-32864681-A-T
gnomAD v4:
19-32864681-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32864681A>T , CM000681.2:g.32864681A>T | GRCh38 |
| NC_000019.9:g.33355587A>T , CM000681.1:g.33355587A>T | GRCh37 |
| NC_000019.8:g.38047427A>T | NCBI36 |
| NG_008258.1:g.10097T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.183T>A MANE Select | ENSP00000023064.3:p.Ala61= | |
| ENST00000023064.8:c.183T>A | ENSP00000023064.3:p.Ala61= | |
| ENST00000587772.1:c.183T>A | ENSP00000468439.1:p.Ala61= | |
| ENST00000590341.5:c.183T>A | ENSP00000464822.1:p.Ala61= | |
| ENST00000590465.5:c.88-343T>A | ENSP00000468076.1:n.88-343T>A | |
| ENST00000592232.5:c.88-343T>A | ENSP00000465563.1:n.88-343T>A | |
| NM_001126335.1:c.183T>A | NP_001119807.1:p.Ala61= | |
| NM_001243036.1:c.183T>A | NP_001229965.1:p.Ala61= | |
| NM_014270.4:c.183T>A | NP_055085.1:p.Ala61= | |
| XM_006722992.1:c.-273T>A | XP_006723055.1:n.-273T>A | |
| XM_011526402.1:c.183T>A | XP_011524704.1:p.Ala61= | |
| XM_011526402.3:c.183T>A | XP_011524704.1:p.Ala61= | |
| XM_017026230.1:c.-29-343T>A | XP_016881719.1:n.-29-343T>A | |
| XM_024451334.1:c.-860T>A | XP_024307102.1:n.-860T>A | |
| NM_014270.5:c.183T>A MANE Select | NP_055085.1:p.Ala61= | |
| NM_001126335.2:c.183T>A | NP_001119807.1:p.Ala61= | |
| NM_001243036.2:c.183T>A | NP_001229965.1:p.Ala61= |