Linked Data
ClinVar Variation Id:
137629
ClinVar RCV Id:
RCV000125478
RCV000224805
RCV000623552
RCV000855472
RCV001091982
RCV003147342
RCV003224865
dbSNP Id:
rs587777450
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10671729C>T , CM000680.2:g.10671729C>T | GRCh38 |
| NC_000018.9:g.10671726C>T , CM000680.1:g.10671726C>T | GRCh37 |
| NC_000018.8:g.10661726C>T | NCBI36 |
| NG_034005.1:g.482034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.*1498G>A | ENSP00000372900.4:n.*1498G>A | |
| ENST00000685517.1:n.3139G>A | ||
| ENST00000691469.1:n.2294G>A | ||
| ENST00000693743.1:c.1592G>A | ENSP00000510331.1:n.1592G>A | |
| ENST00000674853.1:c.8396G>A MANE Select | ENSP00000501957.1:p.Arg2799His | |
| ENST00000302079.10:c.7868G>A | ENSP00000303316.6:p.Arg2623His | |
| ENST00000383408.6:c.7910G>A | ENSP00000372900.3:p.Arg2637His | |
| ENST00000503781.7:c.8057G>A | ENSP00000421377.3:p.Arg2686His | |
| ENST00000538948.5:c.1928G>A | ENSP00000443129.1:p.Arg643His | |
| ENST00000580640.5:c.8132G>A | ENSP00000463094.1:p.Arg2711His | |
| ENST00000581680.1:n.533G>A | ||
| ENST00000582913.5:c.8263G>A | ENSP00000462115.1:n.8263G>A | |
| ENST00000582937.1:c.58+961G>A | ENSP00000462187.1:n.58+961G>A | |
| NM_022068.3:c.8057G>A | NP_071351.2:p.Arg2686His | |
| XM_011525723.1:c.8189G>A | XP_011524025.1:p.Arg2730His | |
| XM_011525724.1:c.8132G>A | XP_011524026.1:p.Arg2711His | |
| XM_011525725.1:c.8099G>A | XP_011524027.1:p.Arg2700His | |
| XM_011525726.1:c.8006G>A | XP_011524028.1:p.Arg2669His | |
| XM_011525723.3:c.8189G>A | XP_011524025.1:p.Arg2730His | |
| XM_011525724.3:c.8132G>A | XP_011524026.1:p.Arg2711His | |
| XM_011525725.3:c.8099G>A | XP_011524027.1:p.Arg2700His | |
| XM_011525726.3:c.8006G>A | XP_011524028.1:p.Arg2669His | |
| XM_017025918.2:c.8150G>A | XP_016881407.1:p.Arg2717His | |
| NM_001378183.1:c.8396G>A MANE Select | NP_001365112.1:p.Arg2799His | |
| NM_022068.4:c.8057G>A | NP_071351.2:p.Arg2686His |