Linked Data
ClinVar Variation Id:
2495433
ClinVar RCV Id:
RCV003213565
dbSNP Id:
rs201730759
gnomAD v4:
10-8058589-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058589G>A , CM000672.2:g.8058589G>A | GRCh38 |
| NC_000010.10:g.8100552G>A , CM000672.1:g.8100552G>A | GRCh37 |
| NC_000010.9:g.8140558G>A | NCBI36 |
| NG_015859.1:g.8886G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.526G>A | ENSP00000341619.3:p.Ala176Thr | |
| ENST00000379328.9:c.526G>A MANE Select | ENSP00000368632.3:p.Ala176Thr | |
| ENST00000346208.3:c.526G>A | ENSP00000341619.3:p.Ala176Thr | |
| ENST00000379328.7:c.526G>A | ENSP00000368632.3:p.Ala176Thr | |
| ENST00000461472.1:n.191G>A | ||
| NM_001002295.1:c.526G>A | NP_001002295.1:p.Ala176Thr | |
| NM_002051.2:c.526G>A | NP_002042.1:p.Ala176Thr | |
| XM_005252442.2:c.526G>A | XP_005252499.1:p.Ala176Thr | |
| XM_005252443.3:c.526G>A | XP_005252500.1:p.Ala176Thr | |
| XM_005252443.5:c.526G>A | XP_005252500.1:p.Ala176Thr | |
| NM_001002295.2:c.526G>A MANE Select | NP_001002295.1:p.Ala176Thr | |
| NM_002051.3:c.526G>A | NP_002042.1:p.Ala176Thr |