Linked Data
ClinVar Variation Id:
2897990
ClinVar RCV Id:
RCV003598515
dbSNP Id:
rs531818587
ExAC:
1:24175147 T / C
gnomAD v2:
1-24175147-T-C
gnomAD v3:
1-23848657-T-C
gnomAD v4:
1-23848657-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848657T>C , CM000663.2:g.23848657T>C | GRCh38 |
| NC_000001.10:g.24175147T>C , CM000663.1:g.24175147T>C | GRCh37 |
| NC_000001.9:g.24047734T>C | NCBI36 |
| NG_013346.1:g.24713A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1152A>G MANE Select | ENSP00000363603.3:p.Thr384= | |
| ENST00000374479.3:c.1152A>G | ENSP00000363603.3:p.Thr384= | |
| NM_000147.4:c.1152A>G | NP_000138.2:p.Thr384= | |
| XM_005245821.1:c.777A>G | XP_005245878.1:p.Thr259= | |
| XM_011541167.1:c.519A>G | XP_011539469.1:p.Thr173= | |
| XM_005245821.3:c.777A>G | XP_005245878.1:p.Thr259= | |
| XM_011541167.3:c.519A>G | XP_011539469.1:p.Thr173= | |
| XM_017000905.2:c.849A>G | XP_016856394.1:p.Thr283= | |
| NM_000147.5:c.1152A>G MANE Select | NP_000138.2:p.Thr384= | |
| NR_174379.1:n.1330A>G | ||
| NR_174380.1:n.1379A>G | ||
| NR_174381.1:n.1218A>G | ||
| NR_174382.1:n.1615A>G |