Linked Data
ClinVar Variation Id:
1547016
ClinVar RCV Id:
RCV002177253
dbSNP Id:
rs2145624324
gnomAD v4:
19-13136246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13136246G>A , CM000681.2:g.13136246G>A | GRCh38 |
| NC_000019.9:g.13247060G>A , CM000681.1:g.13247060G>A | GRCh37 |
| NC_000019.8:g.13108060G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586171.3:c.961G>A | ENSP00000467120.2:p.Ala321Thr | |
| ENST00000700232.1:c.961G>A | ENSP00000514870.1:p.Ala321Thr | |
| ENST00000292431.5:c.961G>A MANE Select | ENSP00000292431.3:p.Ala321Thr | |
| ENST00000292431.4:c.961G>A | ENSP00000292431.3:p.Ala321Thr | |
| NM_052876.3:c.961G>A | NP_443108.1:p.Ala321Thr | |
| XM_005259721.2:c.961G>A | XP_005259778.1:p.Ala321Thr | |
| XM_005259721.3:c.961G>A | XP_005259778.1:p.Ala321Thr | |
| NM_052876.4:c.961G>A MANE Select | NP_443108.1:p.Ala321Thr |