Linked Data
ClinVar Variation Id:
3130190
ClinVar RCV Id:
RCV004420605
dbSNP Id:
rs1229417536
gnomAD v2:
4-177142613-C-T
gnomAD v3:
4-176221462-C-T
gnomAD v4:
4-176221462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176221462C>T , CM000666.2:g.176221462C>T | GRCh38 |
| NC_000004.11:g.177142613C>T , CM000666.1:g.177142613C>T | GRCh37 |
| NC_000004.10:g.177379607C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672074.1:c.388G>A | ENSP00000500617.1:p.Ala130Thr | |
| ENST00000296525.7:c.523G>A MANE Select | ENSP00000296525.3:p.Ala175Thr | |
| ENST00000512254.1:c.364G>A | ENSP00000422877.1:p.Ala122Thr | |
| NM_080874.3:c.523G>A | NP_543150.1:p.Ala175Thr | |
| XM_005262759.1:c.523G>A | XP_005262816.1:p.Ala175Thr | |
| XM_011531616.1:c.388G>A | XP_011529918.1:p.Ala130Thr | |
| XM_011531617.1:c.364G>A | XP_011529919.1:p.Ala122Thr | |
| XM_011531616.2:c.388G>A | XP_011529918.1:p.Ala130Thr | |
| XM_011531617.3:c.364G>A | XP_011529919.1:p.Ala122Thr | |
| NM_080874.4:c.523G>A MANE Select | NP_543150.1:p.Ala175Thr |