Linked Data
ClinVar Variation Id:
449806
dbSNP Id:
rs201945549
ExAC:
4:121774625 C / T
gnomAD v2:
4-121774625-C-T
gnomAD v3:
4-120853470-C-T
gnomAD v4:
4-120853470-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.120853470C>T , CM000666.2:g.120853470C>T | GRCh38 |
| NC_000004.11:g.121774625C>T , CM000666.1:g.121774625C>T | GRCh37 |
| NC_000004.10:g.121994075C>T | NCBI36 |
| NG_031862.2:g.74389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264808.8:c.248G>A MANE Select | ENSP00000264808.3:p.Arg83His | |
| ENST00000264808.7:c.248G>A | ENSP00000264808.3:p.Arg83His | |
| ENST00000394435.2:c.248G>A | ENSP00000377955.2:p.Arg83His | |
| ENST00000428209.6:c.248G>A | ENSP00000404832.2:p.Arg83His | |
| ENST00000505484.5:n.321G>A | ||
| ENST00000512845.5:n.335G>A | ||
| ENST00000515109.5:c.248G>A | ENSP00000422309.1:p.Arg83His | |
| NM_001300823.1:c.248G>A | NP_001287752.1:p.Arg83His | |
| NM_001300824.1:c.248G>A | NP_001287753.1:p.Arg83His | |
| NM_018699.3:c.248G>A | NP_061169.2:p.Arg83His | |
| XM_005262708.2:c.248G>A | XP_005262765.1:p.Arg83His | |
| XM_011531562.1:c.248G>A | XP_011529864.1:p.Arg83His | |
| XM_011531563.1:c.248G>A | XP_011529865.1:p.Arg83His | |
| XM_011531564.1:c.248G>A | XP_011529866.1:p.Arg83His | |
| XM_011531565.1:c.248G>A | XP_011529867.1:p.Arg83His | |
| XM_011531566.1:c.248G>A | XP_011529868.1:p.Arg83His | |
| XM_011531567.1:c.248G>A | XP_011529869.1:p.Arg83His | |
| XM_011531568.1:c.248G>A | XP_011529870.1:p.Arg83His | |
| XM_011531569.1:c.248G>A | XP_011529871.1:p.Arg83His | |
| XM_011531570.1:c.-252G>A | XP_011529872.1:n.-252G>A | |
| XR_938677.1:n.489G>A | ||
| XR_938678.1:n.489G>A | ||
| XR_938679.1:n.489G>A | ||
| XR_938680.1:n.489G>A | ||
| XM_005262708.3:c.248G>A | XP_005262765.1:p.Arg83His | |
| XM_011531562.2:c.248G>A | XP_011529864.1:p.Arg83His | |
| XM_011531563.2:c.248G>A | XP_011529865.1:p.Arg83His | |
| XM_011531564.2:c.248G>A | XP_011529866.1:p.Arg83His | |
| XM_011531565.2:c.248G>A | XP_011529867.1:p.Arg83His | |
| XM_011531566.3:c.248G>A | XP_011529868.1:p.Arg83His | |
| XM_011531567.2:c.248G>A | XP_011529869.1:p.Arg83His | |
| XM_011531568.2:c.248G>A | XP_011529870.1:p.Arg83His | |
| XM_011531569.3:c.248G>A | XP_011529871.1:p.Arg83His | |
| XM_011531570.3:c.-252G>A | XP_011529872.1:n.-252G>A | |
| XM_017007668.2:c.170G>A | XP_016863157.1:p.Arg57His | |
| XM_017007669.1:c.248G>A | XP_016863158.1:p.Arg83His | |
| XM_017007670.1:c.248G>A | XP_016863159.1:p.Arg83His | |
| XM_024453879.1:c.-252G>A | XP_024309647.1:n.-252G>A | |
| XR_938677.3:n.489G>A | ||
| XR_938680.2:n.489G>A | ||
| NM_001300823.2:c.248G>A | NP_001287752.1:p.Arg83His | |
| NM_001300824.2:c.248G>A | NP_001287753.1:p.Arg83His | |
| NM_001379104.1:c.248G>A | NP_001366033.1:p.Arg83His | |
| NM_001379106.1:c.248G>A | NP_001366035.1:p.Arg83His | |
| NM_018699.4:c.248G>A MANE Select | NP_061169.2:p.Arg83His |