Linked Data
ClinVar Variation Id:
522271
dbSNP Id:
rs552133569
ExAC:
19:50826326 C / T
gnomAD v2:
19-50826326-C-T
gnomAD v3:
19-50323069-C-T
gnomAD v4:
19-50323069-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50323069C>T , CM000681.2:g.50323069C>T | GRCh38 |
| NC_000019.9:g.50826326C>T , CM000681.1:g.50826326C>T | GRCh37 |
| NC_000019.8:g.55518138C>T | NCBI36 |
| NG_008134.2:g.11309G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477616.2:c.1884G>A MANE Select | ENSP00000434241.1:p.Ala628= | |
| ENST00000670667.1:c.1884G>A | ENSP00000499301.1:p.Ala628= | |
| ENST00000376959.6:c.1884G>A | ENSP00000366158.2:p.Ala628= | |
| ENST00000474951.1:c.-74-2285G>A | ENSP00000432438.1:n.-74-2285G>A | |
| ENST00000477616.1:c.1884G>A | ENSP00000434241.1:p.Ala628= | |
| NM_004977.2:c.1884G>A | NP_004968.2:p.Ala628= | |
| NR_110912.1:n.48-2285G>A | ||
| XM_006723203.2:c.1884G>A | XP_006723266.1:p.Ala628= | |
| XM_011526925.1:c.1884G>A | XP_011525227.1:p.Ala628= | |
| XM_011526926.1:c.1884G>A | XP_011525228.1:p.Ala628= | |
| XM_011526927.1:c.1884G>A | XP_011525229.1:p.Ala628= | |
| XM_011526928.1:c.1884G>A | XP_011525230.1:p.Ala628= | |
| NM_001372305.1:c.1656G>A | NP_001359234.1:p.Ala552= | |
| NM_004977.3:c.1884G>A MANE Select | NP_004968.2:p.Ala628= | |
| NR_110912.2:n.69-2285G>A |