Linked Data
ClinVar Variation Id:
225320
ClinVar RCV Id:
RCV000490355
RCV001127361
RCV001126949
RCV001127360
RCV002298529
RCV002347820
RCV003319187
RCV000877791
RCV002277572
RCV003324521
dbSNP Id:
rs148216434
ExAC:
17:48264049 C / T
gnomAD v2:
17-48264049-C-T
gnomAD v3:
17-50186688-C-T
gnomAD v4:
17-50186688-C-T
PubMed:
PMID:21667357
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50186688C>T , CM000679.2:g.50186688C>T | GRCh38 |
| NC_000017.10:g.48264049C>T , CM000679.1:g.48264049C>T | GRCh37 |
| NC_000017.9:g.45619048C>T | NCBI36 |
| NG_007400.1:g.19952G>A , LRG_1:g.19952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3766G>A MANE Select | ENSP00000225964.6:p.Ala1256Thr | |
| ENST00000225964.9:c.3766G>A | ENSP00000225964.5:p.Ala1256Thr | |
| ENST00000510710.3:n.435G>A | ||
| NM_000088.3:c.3766G>A , LRG_1t1:c.3766G>A | NP_000079.2:p.Ala1256Thr | |
| XM_005257058.3:c.3496G>A | XP_005257115.2:p.Ala1166Thr | |
| XM_005257059.3:c.2848G>A | XP_005257116.2:p.Ala950Thr | |
| XM_011524341.1:c.3568G>A | XP_011522643.1:p.Ala1190Thr | |
| XM_005257058.4:c.3496G>A | XP_005257115.2:p.Ala1166Thr | |
| XM_005257059.4:c.2848G>A | XP_005257116.2:p.Ala950Thr | |
| NM_000088.4:c.3766G>A MANE Select | NP_000079.2:p.Ala1256Thr |