Linked Data
ClinVar Variation Id:
2429109
dbSNP Id:
rs139416718
ExAC:
2:26688591 C / T
gnomAD v2:
2-26688591-C-T
gnomAD v3:
2-26465723-C-T
gnomAD v4:
2-26465723-C-T
ERepo:
CA1563057/MONDO:0010986/023
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26465723C>T , CM000664.2:g.26465723C>T | GRCh38 |
| NC_000002.11:g.26688591C>T , CM000664.1:g.26688591C>T | GRCh37 |
| NC_000002.10:g.26542095C>T | NCBI36 |
| NG_009937.1:g.97976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.4748G>A MANE Select | ENSP00000272371.2:p.Arg1583His | |
| ENST00000339598.8:c.2447G>A MANE Plus Clinical | ENSP00000344521.3:p.Arg816His | |
| ENST00000402415.8:c.2507G>A | ENSP00000383906.4:p.Arg836His | |
| ENST00000272371.6:c.4748G>A | ENSP00000272371.2:p.Arg1583His | |
| ENST00000338581.10:c.2447G>A | ENSP00000345137.6:p.Arg816His | |
| ENST00000339598.7:c.2447G>A | ENSP00000344521.3:p.Arg816His | |
| ENST00000402415.7:c.2678G>A | ENSP00000383906.3:p.Arg893His | |
| ENST00000403946.7:c.4748G>A | ENSP00000385255.3:p.Arg1583His | |
| ENST00000464574.1:n.497G>A | ||
| NM_001287489.1:c.4748G>A | NP_001274418.1:p.Arg1583His | |
| NM_004802.3:c.2447G>A | NP_004793.2:p.Arg816His | |
| NM_194248.2:c.4748G>A | NP_919224.1:p.Arg1583His | |
| NM_194322.2:c.2678G>A | NP_919303.1:p.Arg893His | |
| NM_194323.2:c.2447G>A | NP_919304.1:p.Arg816His | |
| XM_005264644.2:c.4733G>A | XP_005264701.1:p.Arg1578His | |
| XM_011533185.1:c.4793G>A | XP_011531487.1:p.Arg1598His | |
| XM_017005338.1:c.4688G>A | XP_016860827.1:p.Arg1563His | |
| NM_001287489.2:c.4748G>A | NP_001274418.1:p.Arg1583His | |
| NM_004802.4:c.2447G>A | NP_004793.2:p.Arg816His | |
| NM_194248.3:c.4748G>A MANE Select | NP_919224.1:p.Arg1583His | |
| NM_194322.3:c.2678G>A | NP_919303.1:p.Arg893His | |
| NM_194323.3:c.2447G>A MANE Plus Clinical | NP_919304.1:p.Arg816His |