Linked Data
ClinVar Variation Id:
1392003
ClinVar RCV Id:
RCV001911135
dbSNP Id:
rs782412095
ExAC:
19:8645812 G / T
gnomAD v2:
19-8645812-G-T
gnomAD v3:
19-8580928-G-T
gnomAD v4:
19-8580928-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8580928G>T , CM000681.2:g.8580928G>T | GRCh38 |
| NC_000019.9:g.8645812G>T , CM000681.1:g.8645812G>T | GRCh37 |
| NC_000019.8:g.8551812G>T | NCBI36 |
| NG_011840.2:g.34775C>A | |
| NG_052844.1:g.1520C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.3277C>A MANE Select | ENSP00000471851.1:p.Arg1093Ser | |
| ENST00000270328.8:c.3277C>A | ENSP00000270328.4:p.Arg1093Ser | |
| ENST00000593913.5:c.*2154C>A | ENSP00000469901.1:n.*2154C>A | |
| ENST00000595838.5:c.1738C>A | ENSP00000470501.1:p.Arg580Ser | |
| ENST00000597188.5:c.3277C>A | ENSP00000471851.1:p.Arg1093Ser | |
| NM_001282352.1:c.1738C>A | NP_001269281.1:p.Arg580Ser | |
| NM_030957.3:c.3277C>A | NP_112219.3:p.Arg1093Ser | |
| XM_006722917.2:c.2320C>A | XP_006722980.1:p.Arg774Ser | |
| XM_011528331.1:c.3424C>A | XP_011526633.1:p.Arg1142Ser | |
| XM_011528332.1:c.3424C>A | XP_011526634.1:p.Arg1142Ser | |
| XM_011528333.1:c.3424C>A | XP_011526635.1:p.Arg1142Ser | |
| XM_011528334.1:c.3100C>A | XP_011526636.1:p.Arg1034Ser | |
| XM_011528335.1:c.1993C>A | XP_011526637.1:p.Arg665Ser | |
| XM_011528336.1:c.1987C>A | XP_011526638.1:p.Arg663Ser | |
| XM_006722917.3:c.2320C>A | XP_006722980.1:p.Arg774Ser | |
| XM_017027338.2:c.3277C>A | XP_016882827.1:p.Arg1093Ser | |
| XM_017027339.1:c.1846C>A | XP_016882828.1:p.Arg616Ser | |
| XM_017027340.1:c.1840C>A | XP_016882829.1:p.Arg614Ser | |
| NM_030957.4:c.3277C>A MANE Select | NP_112219.3:p.Arg1093Ser | |
| NM_001282352.2:c.1738C>A | NP_001269281.1:p.Arg580Ser |