Linked Data
ClinVar Variation Id:
375287
ClinVar RCV Id:
RCV000416342
dbSNP Id:
rs1057519057
gnomAD v4:
18-53391876-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.53391876G>A , CM000680.2:g.53391876G>A | GRCh38 |
| NC_000018.9:g.50918246G>A , CM000680.1:g.50918246G>A | GRCh37 |
| NC_000018.8:g.49172244G>A | NCBI36 |
| NG_013341.1:g.1056705G>A | |
| NG_013341.2:g.1056705G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000442544.7:c.2677G>A MANE Select | ENSP00000389140.2:p.Ala893Thr | |
| ENST00000304775.12:c.2257-5432G>A | ||
| ENST00000412726.5:c.2608G>A | ENSP00000397322.2:p.Ala870Thr | |
| ENST00000442544.6:c.2677G>A | ENSP00000389140.2:p.Ala893Thr | |
| ENST00000579941.1:c.93G>A | ||
| ENST00000581580.5:c.1582G>A | ENSP00000464582.1:p.Ala528Thr | |
| NM_005215.3:c.2677G>A | NP_005206.2:p.Ala893Thr | |
| XM_011525843.1:c.2677G>A | XP_011524145.1:p.Ala893Thr | |
| XM_011525844.1:c.1642G>A | XP_011524146.1:p.Ala548Thr | |
| XM_011525845.1:c.2677G>A | XP_011524147.1:p.Ala893Thr | |
| XM_011525846.1:c.2617G>A | XP_011524148.1:p.Ala873Thr | |
| XM_011525844.2:c.1642G>A | XP_011524146.1:p.Ala548Thr | |
| XM_017025568.1:c.2677G>A | XP_016881057.1:p.Ala893Thr | |
| XM_017025569.1:c.2617G>A | XP_016881058.1:p.Ala873Thr | |
| XM_017025570.1:c.1642G>A | XP_016881059.1:p.Ala548Thr | |
| NM_005215.4:c.2677G>A MANE Select | NP_005206.2:p.Ala893Thr |