Linked Data
ClinVar Variation Id:
3132720
ClinVar RCV Id:
RCV004423630
dbSNP Id:
rs1382067342
gnomAD v4:
5-177604237-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604237G>A , CM000667.2:g.177604237G>A | GRCh38 |
| NC_000005.9:g.177031238G>A , CM000667.1:g.177031238G>A | GRCh37 |
| NC_000005.8:g.176963844G>A | NCBI36 |
| NG_015977.1:g.9120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.109G>A MANE Select | ENSP00000029410.5:p.Ala37Thr | |
| ENST00000029410.9:c.109G>A | ENSP00000029410.5:p.Ala37Thr | |
| ENST00000502420.1:n.130-42G>A | ||
| ENST00000505433.5:c.109G>A | ENSP00000425591.1:p.Ala37Thr | |
| ENST00000505468.1:c.-234G>A | ENSP00000420886.1:n.-234G>A | |
| ENST00000510761.1:c.-234G>A | ENSP00000423438.1:n.-234G>A | |
| NM_007255.2:c.109G>A | NP_009186.1:p.Ala37Thr | |
| XM_005265805.2:c.-234G>A | XP_005265862.1:n.-234G>A | |
| XM_006714816.2:c.-391G>A | XP_006714879.1:n.-391G>A | |
| XM_011534421.1:c.-234G>A | XP_011532723.1:n.-234G>A | |
| XM_006714816.4:c.-391G>A | XP_006714879.1:n.-391G>A | |
| XM_017008999.2:c.-234G>A | XP_016864488.1:n.-234G>A | |
| NM_007255.3:c.109G>A MANE Select | NP_009186.1:p.Ala37Thr |