Linked Data
ClinVar Variation Id:
298232
ClinVar RCV Id:
RCV000301076
RCV000340669
RCV000353628
RCV000393458
RCV000486564
RCV001075649
RCV001101750
dbSNP Id:
rs114518437
ExAC:
1:94486889 C / A
gnomAD v2:
1-94486889-C-A
gnomAD v3:
1-94021333-C-A
gnomAD v4:
1-94021333-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021333C>A , CM000663.2:g.94021333C>A | GRCh38 |
| NC_000001.10:g.94486889C>A , CM000663.1:g.94486889C>A | GRCh37 |
| NC_000001.9:g.94259477C>A | NCBI36 |
| NG_009073.1:g.104817G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4925G>T MANE Select | ENSP00000359245.3:p.Ser1642Ile | |
| ENST00000370225.3:c.4925G>T | ENSP00000359245.3:p.Ser1642Ile | |
| ENST00000460514.1:n.419G>T | ||
| ENST00000470771.1:n.35G>T | ||
| ENST00000536513.5:c.1301G>T | ENSP00000439707.2:p.Ser434Ile | |
| NM_000350.2:c.4925G>T | NP_000341.2:p.Ser1642Ile | |
| NM_000350.3:c.4925G>T MANE Select | NP_000341.2:p.Ser1642Ile |